Works matching Diastrophic dysplasia

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    A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2088, doi. 10.1002/ajmg.a.36057
    By:
    • Zechi ‐ Ceide, Roseli Maria;
    • Moura, Priscila Padilha;
    • Raskin, Salmo;
    • Richieri ‐ Costa, Antonio;
    • Guion ‐ Almeida, Maria Leine
    Publication type:
    Article
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    Lung function in diastrophic dysplasia.

    Published in:
    Pediatric Pulmonology, 2002, v. 33, n. 4, p. 277, doi. 10.1002/ppul.10069
    By:
    • Remes, Ville;
    • Helenius, Ilkka;
    • Peltonen, Jari;
    • Poussa, Mikko;
    • Sovijärvi, Anssi
    Publication type:
    Article
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    Fetal MR imaging of atelosteogenesis type II (AO-II).

    Published in:
    Pediatric Radiology, 2008, v. 38, n. 12, p. 1345, doi. 10.1007/s00247-008-0974-y
    By:
    • Miller, Elka;
    • Blaser, Susan;
    • Miller, Stephen;
    • Keating, Sarah;
    • Thompson, Megan;
    • Unger, Sheila;
    • Toi, Ants;
    • Berger, Howard;
    • Chong, Karen
    Publication type:
    Article