Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 3

Results: 56

Distinctive facial features in Andersen–Tawil syndrome: A three‐dimensional stereophotogrammetric analysis.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 781, doi. 10.1002/ajmg.a.62040

By:

Dolci, Claudia;
Sansone, Valeria A.;
Gibelli, Daniele;
Cappella, Annalisa;
Sforza, Chiarella

Publication type:

Article

Interdisciplinary care of children with trisomy 13 and 18.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 966, doi. 10.1002/ajmg.a.62051

By:

Weaver, Meaghann S.;
Anderson, Venus;
Beck, Jill;
Delaney, Jeffrey W.;
Ellis, Cynthia;
Fletcher, Scott;
Hammel, James;
Haney, Suzanne;
Macfadyen, Andrew;
Norton, Bridget;
Rickard, Mary;
Robinson, Jeffrey A.;
Sewell, Ryan;
Starr, Lois;
Birge, Nicole D.

Publication type:

Article

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 836, doi. 10.1002/ajmg.a.62066

By:

Gofin, Yoel;
Mackay, Laura Palmer;
Machol, Keren;
Keswani, Sundeep;
Potocki, Lorraine;
Di Gregorio, Eleonora;
Naretto, Valeria Giorgia;
Brusco, Alfredo;
Hernandez‐Garcia, Andres;
Scott, Daryl A.

Publication type:

Article

Confirming the involvement of PIEZO2 in the etiology of Marden–Walker syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 945, doi. 10.1002/ajmg.a.62052

By:

Seidahmed, Mohammed Zain;
Maddirevula, Sateesh;
Miqdad, Abeer M.;
Al Faifi, Abdullah;
Al Samadi, Abdulmohsen;
Alkuraya, Fowzan S.

Publication type:

Article

Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 937, doi. 10.1002/ajmg.a.62050

By:

Beaudoux, Olivia;
Lebre, Anne‐Sophie;
Doco Fenzy, Martine;
Spodenkiewicz, Marta;
Canivet, Eric;
Colosio, Charlotte;
Poirsier, Céline

Publication type:

Article

Clinical presentation and evolution of Xia‐Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 990, doi. 10.1002/ajmg.a.62049

By:

Mubungu, Gerrye;
Makay, Prince;
Boujemla, Bouchra;
Yanda, Stephane;
Posey, Jennifer E.;
Lupski, James R.;
Bours, Vincent;
Lukusa, Prosper;
Devriendt, Koenraad;
Lumaka, Aimé

Publication type:

Article

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 955, doi. 10.1002/ajmg.a.62047

By:

Morlino, Silvia;
Nardella, Grazia;
Castellana, Stefano;
Micale, Lucia;
Copetti, Massimiliano;
Fusco, Carmela;
Castori, Marco

Publication type:

Article

Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 930, doi. 10.1002/ajmg.a.62048

By:

Reunert, Janine;
Heuvel, Alijda;
Rust, Stephan;
Marquardt, Thorsten

Publication type:

Article

Craniofacial and occlusal features of children with Noonan syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 820, doi. 10.1002/ajmg.a.62046

By:

Bagattoni, Simone;
Costi, Tommaso;
D'Alessandro, Giovanni;
Toni, Sara;
Gatto, Maria Rosaria;
Piana, Gabriela

Publication type:

Article

Sertraline as a treatment option for temper outbursts in Prader–Willi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 790, doi. 10.1002/ajmg.a.62041

By:

Deest, Maximilian;
Jakob, Maximilian Michael;
Seifert, Johanna;
Bleich, Stefan;
Frieling, Helge;
Eberlein, Christian

Publication type:

Article

Stargardt misdiagnosis: How ocular genetics helps.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 814, doi. 10.1002/ajmg.a.62045

By:

Ibanez, Manuel Benjamin;
Guimarães, Thales Antonio Cabral;
Capasso, Jenina;
Bello, Nicholas;
Levin, Alex V.

Publication type:

Article

A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 806, doi. 10.1002/ajmg.a.62044

By:

Kosiv, Katherine A.;
Long, Jin;
Lee, Henry C.;
Collins, R. Thomas

Publication type:

Article

Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 798, doi. 10.1002/ajmg.a.62043

By:

Meyer, April N.;
Modaff, Peggy;
Wang, Clark G.;
Wohler, Elizabeth;
Sobreira, Nara L.;
Donoghue, Daniel J.;
Pauli, Richard M.

Publication type:

Article

A case of White–Sutton syndrome with previously described loss‐of‐function variant in DDE domain of POGZ (p.Arg1211*) and Kartagener syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 1006, doi. 10.1002/ajmg.a.62042

By:

Dal, Sameer;
Hopper, Bruce;
Chattel, Maureen Van Rossum;
Goel, Himanshu

Publication type:

Article

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 774, doi. 10.1002/ajmg.a.62039

By:

Noronha, Renata M.;
Villares, Sandra M F;
Torres, Natalia;
Quedas, Elisangela P S;
Homma, Thais Kataoka;
Albuquerque, Edoarda V A;
Moraes, Michelle B;
Funari, Mariana F A;
Bertola, Debora R;
Jorge, Alexander A L;
Malaquias, Alexsandra C

Publication type:

Article

Metacarpophalangeal pattern profile analysis for a 3‐month‐old infant with Feingold syndrome 2.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 952, doi. 10.1002/ajmg.a.62038

By:

Isobe, Aiko;
Maeda, Naonori;
Fujita, Hisayo;
Banno, Sari;
Kageyama, Tomoka;
Hatabu, Naomi;
Sato, Rieko;
Suzuki, Eri;
Miharu, Masashi;
Komiyama, Osamu;
Nakashima, Moeko;
Matsunaga, Tatsuo;
Nishimura, Gen;
Yamazawa, Kazuki

Publication type:

Article

Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 916, doi. 10.1002/ajmg.a.62036

By:

Walters, Michelle E.;
Lacassie, Yves;
Azamian, Mahshid;
Franciskovich, Rachel;
Zapata, Gladys;
Hernandez, Patricia P.;
Liu, Pengfei;
Campbell, Ian M.;
Bostwick, Bret L.;
Lalani, Seema R.

Publication type:

Article

TBX5‐encoded T‐box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 923, doi. 10.1002/ajmg.a.62037

By:

Markunas, Alexandra M.;
Manivannan, Perathu K. R.;
Ezekian, Jordan E.;
Agarwal, Agnim;
Eisner, William;
Alsina, Katherina;
Allen, Hugh D.;
Wray, Gregory A.;
Kim, Jeffrey J.;
Wehrens, Xander H. T.;
Landstrom, Andrew P.

Publication type:

Article

Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31‐year‐old woman.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 995, doi. 10.1002/ajmg.a.62035

By:

Yu, Pui Tak;
Luk, Ho‐ming;
Mok, Myth T;
Lo, FM Ivan

Publication type:

Article

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 909, doi. 10.1002/ajmg.a.62031

By:

Clarkston, Kathryn;
Lee, Joy;
Donoghue, Sarah;
Peters, Heidi;
Eiroa, Hernan;
Shah, Amit A.;
Loomes, Kathleen;
Wen, Jessica;
Oliver, Mark;
Hardikar, Winita;
Prada, Carlos E.;
Asai, Akihiro

Publication type:

Article

Cardiac evaluation of patients with 22q11.2 duplication syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 753, doi. 10.1002/ajmg.a.62032

By:

Butensky, Adam;
Rinaldis, Chiara Pandolfi;
Patel, Shrey;
Edman, Sharon;
Bailey, Alice;
McGinn, Daniel E.;
Zackai, Elaine;
Crowley, T. Blaine;
McDonald‐McGinn, Donna M.;
Min, Jungwon;
Goldmuntz, Elizabeth

Publication type:

Article

Prevalence and risk factors of radial ray deficiencies: A population‐based case–control study.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 759, doi. 10.1002/ajmg.a.62033

By:

Syvänen, Johanna;
Raitio, Arimatias;
Helenius, Ilkka;
Löyttyniemi, Eliisa;
Lahesmaa‐Korpinen, Anna‐Maria;
Gissler, Mika;
Nietosvaara, Yrjänä

Publication type:

Article

Dual molecular diagnoses in a neurometabolic specialty clinic.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 766, doi. 10.1002/ajmg.a.62034

By:

Hannah‐Shmouni, Fady;
Al‐Shahoumi, Rashid;
Brady, Lauren I.;
Wu, Lily;
Frei, Julia;
Tarnopolsky, Mark A.

Publication type:

Article

Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 732, doi. 10.1002/ajmg.a.62029

By:

Dassie, Francesca;
Lorusso, Riccardina;
Benavides‐Varela, Silvia;
Milan, Gabriella;
Favaretto, Francesca;
Callus, Edward;
Cagnin, Stefano;
Reggiani, Francesco;
Minervini, Giovanni;
Tosatto, Silvio;
Vettor, Roberto;
Semenza, Carlo;
Maffei, Pietro

Publication type:

Article

ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 743, doi. 10.1002/ajmg.a.62030

By:

Steinle, Jacob;
Hossain, Waheeda A.;
Lovell, Scott;
Veatch, Olivia J.;
Butler, Merlin G.

Publication type:

Article

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 719, doi. 10.1002/ajmg.a.62028

By:

Schindler, Emma A.;
Gilbert, Melissa A.;
Piccoli, David A.;
Spinner, Nancy B.;
Krantz, Ian D.;
Loomes, Kathleen M.

Publication type:

Article

Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 999, doi. 10.1002/ajmg.a.62027

By:

Takenouchi, Toshiki;
Kodo, Kazuki;
Yamazaki, Fumito;
Nakatomi, Hirofumi;
Kosaki, Kenjiro

Publication type:

Article

Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 901, doi. 10.1002/ajmg.a.62026

By:

Stern, Tomer;
Orenstein, Naama;
Fellner, Avi;
Lev‐El Halabi, Noa;
Shuldiner, Alan R.;
Gonzaga‐Jauregui, Claudia;
Lidzbarsky, Gabriel;
Basel‐Salmon, Lina;
Goldberg‐Stern, Hadassa

Publication type:

Article

Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 894, doi. 10.1002/ajmg.a.62025

By:

Kopp, Nathan;
Amarillo, Ina;
Martinez‐Agosto, Julian;
Quintero‐Rivera, Fabiola

Publication type:

Article

Two loss‐of‐function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 710, doi. 10.1002/ajmg.a.62024

By:

Zhang, Tingting;
Yang, Yun;
Yin, Xueling;
Wang, Xueqing;
Ni, Jihong;
Dong, Zhiya;
Li, Chuanyin;
Lu, Wenli

Publication type:

Article

Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 889, doi. 10.1002/ajmg.a.62023

By:

Gileta, Alexander F.;
Helgeson, Maria L.;
Leonard, Jacqueline M. M.;
Pyle, Louise C.;
Subramanian, Hari P.;
Arndt, Kelly;
Hawkes, Colin P.;
del Gaudio, Daniela

Publication type:

Article

Insight versus hindsight: What we have learned after 17 years of research with sex chromosome abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 1004, doi. 10.1002/ajmg.a.62022

By:

Samango‐Sprouse, Carole;
Counts, Debra;
Gropman, Andrea

Publication type:

Article

Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37‐PACS1‐PACS2 axis.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 884, doi. 10.1002/ajmg.a.62020

By:

Sakaguchi, Yuri;
Yoshihashi, Hiroshi;
Uehara, Tomoko;
Miyama, Sahoko;
Kosaki, Kenjiro;
Takenouchi, Toshiki

Publication type:

Article

A pilot clinical trial with losartan in Myhre syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 702, doi. 10.1002/ajmg.a.62019

By:

Cappuccio, Gerarda;
Caiazza, Martina;
Roca, Alessandro;
Melis, Daniela;
Iuliano, Antonella;
Matyas, Gabor;
Rubino, Marta;
Limongelli, Giuseppe;
Brunetti‐Pierri, Nicola

Publication type:

Article

Quality of life in adults with achondroplasia in the United States.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 695, doi. 10.1002/ajmg.a.62018

By:

Yonko, Elizabeth A.;
Emanuel, Jillian S.;
Carter, Erin M.;
Raggio, Cathleen L.

Publication type:

Article

De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 877, doi. 10.1002/ajmg.a.62017

By:

Martinez‐Delgado, Beatriz;
Lopez‐Martin, Estrella;
Lara‐Herguedas, Julián;
Monzon, Sara;
Cuesta, Isabel;
Juliá, Miguel;
Aquino, Virginia;
Rodriguez‐Martin, Carlos;
Damian, Alejandra;
Gonzalo, Irene;
Gomez‐Mariano, Gema;
Baladron, Beatriz;
Cazorla, Rosario;
Iglesias, Gema;
Roman, Enriqueta;
Ros, Purificacion;
Tutor, Pablo;
Mellor, Susana;
Jimenez, Carlos;
Cabrejas, Maria Jose

Publication type:

Article

PIGO variants in a boy with features of Mabry syndrome who also exhibits Fryns syndrome with peripheral neuropathy.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 845, doi. 10.1002/ajmg.a.62005

By:

Okuda, Taro;
Yonekawa, Takahiro;
Murakami, Yoshiko;
Kinoshita, Taroh;
Ito, Takahiro;
Matsushita, Kohei;
Koike, Yuhki;
Inoue, Mikihiro;
Uchida, Keiichi;
Yodoya, Noriko;
Ohashi, Hiroyuki;
Sawada, Hirofumi;
Iwamoto, Shotaro;
Mitani, Yoshihide;
Hirayama, Masahiro

Publication type:

Article

Successful pregnancies in an adult with Meier‐Gorlin syndrome harboring biallelic CDT1 variants.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 871, doi. 10.1002/ajmg.a.62016

By:

Knapp, Karen M.;
Murray, Jennie;
Temple, I. Karen;
Bicknell, Louise S.

Publication type:

Article

Corrigendum to "Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III. Am J Med Genet Part A. 2020;182A:1190–1,200".

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 1008, doi. 10.1002/ajmg.a.62014

By:

Perveen, Shama;
Gupta, Neerja;
Kumar, Manoj;
Kaur, Punit;
Chowdhury, Madhumita R.;
Kabra, Madhulika

Publication type:

Article

Ciliopathies: Coloring outside of the lines.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 687, doi. 10.1002/ajmg.a.62013

By:

Strong, Alanna;
Li, Dong;
Mentch, Frank;
Bedoukian, Emma;
Hartung, Erum A.;
Meyers, Kevin;
Skraban, Cara;
Wen, Jessica;
Medne, Livija;
Glessner, Joseph;
Watson, Deborah;
Krantz, Ian;
Hakonarson, Hakon

Publication type:

Article

Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 866, doi. 10.1002/ajmg.a.62012

By:

Hirata, Katsuya;
Okamoto, Nobuhiko;
Ichikawa, Chihiro;
Inoue, Shouta;
Nozaki, Masatoshi;
Banno, Kimihiko;
Takenouchi, Toshiki;
Suzuki, Hisato;
Kosaki, Kenjiro

Publication type:

Article

CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 827, doi. 10.1002/ajmg.a.62011

By:

Freed, Amanda S.;
Schwarz, Anisha C.;
Brei, Brianna K.;
Clowes Candadai, Sarah V.;
Thies, Jenny;
Mah, Jean K.;
Chabra, Shilpi;
Wang, Leo;
Innes, A. Micheil;
Bennett, James T.

Publication type:

Article

Carpenter syndrome in a patient from Tanzania.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 986, doi. 10.1002/ajmg.a.62015

By:

Lodhia, Jay;
Rego‐Garcia, Iago;
Koipapi, Sengua;
Sadiq, Adnan;
Msuya, David;
Spaendonk, ResieVervenne‐van;
Hamel, Ben;
Dekker, Marieke

Publication type:

Article

Aplasia cutis congenita in a CDC42‐related developmental phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 850, doi. 10.1002/ajmg.a.62009

By:

Schnabel, Franziska;
Kamphausen, Susanne B.;
Funke, Rudolf;
Kaulfuß, Silke;
Wollnik, Bernd;
Zenker, Martin

Publication type:

Article

Koolen‐de Vries syndrome: First report of two unrelated Indian patients.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 982, doi. 10.1002/ajmg.a.62008

By:

Saxena, Deepti;
Moirangthem, Amita;
Shambhavi, Arya;
Phadke, Shubha R.

Publication type:

Article

A de novo ATXN2L variant in a child with developmental delay and macrocephaly.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 949, doi. 10.1002/ajmg.a.62007

By:

Alzahrani, Fatema;
Albatti, Turki H.;
Alkuraya, Fowzan S.

Publication type:

Article

Koolen‐de Vries syndrome in the first adulthood patient of Southern India ancestry.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 978, doi. 10.1002/ajmg.a.62006

By:

Pascolini, Giulia;
Gaudioso, Federica;
Fadda, Maria Teresa;
Laino, Luigi;
Ferraris, Alessandro;
Grammatico, Paola

Publication type:

Article

Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 856, doi. 10.1002/ajmg.a.62010

By:

Siccha, Sofía M.;
Cueto, Anna María;
Parrón‐Pajares, Manuel;
González‐Morán, Gaspar;
Pacio‐Miguez, Marta;
Del Pozo, Ángela;
Solís, Mario;
Rodriguez‐Jimenez, Carmen;
Caino, Silvia;
Fano, Virginia;
Heath, Karen E.;
García‐Miñaúr, Sixto;
Palomares‐Bralo, María;
Santos‐Simarro, Fernando

Publication type:

Article

Intraperitoneal bladder rupture in a young child with vascular Ehlers‐Danlos syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 841, doi. 10.1002/ajmg.a.62004

By:

Nanduri, Rahul;
Jones, Eric;
Miller‐Hance, Wanda;
Lewis, Andrea M.;
Morris, Shaine A.

Publication type:

Article

Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 675, doi. 10.1002/ajmg.a.62003

By:

So, Po L.;
Luk, Ho M.;
Yu, Kris P. T.;
Cheng, Shirley S.W.;
Hau, Edgar W. L.;
Ho, Stephanie K. L.;
Lam, Stephen T. S.;
Lo, Ivan F. M.

Publication type:

Article