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- Title
Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.
- Authors
Dardis, Andrea; Pianta, Annalisa; Zampieri, Stefania; Zanin, Irene; Bertoli, Marta; Cazzagon, Monica; Bregant, Elisa; Damante, Giuseppe; Bembi, Bruno; Ciana, Giovanni
- Abstract
The article presents a case study of a 8-year-old male presenting the radiological and clinical hallmarks of Mesomelia-synostoses syndrome (MSS). No genomic imbalances were identified in a submicroscopic duplication in the Xp22.33 cytoband, using the commercial Agilent Human Genome Comparative genomic hybridization (CGH_ oligonucleotide array. The article discusses patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.
- Subjects
GENETIC mutation; GENETIC disorder diagnosis; CHROMOSOME duplication; OLIGONUCLEOTIDE arrays; COMPARATIVE genomic hybridization
- Publication
Clinical Genetics, 2019, Vol 95, Issue 2, p336
- ISSN
0009-9163
- Publication type
Case Study
- DOI
10.1111/cge.13464