The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome

Williams-Beuren syndrome is a rare contiguous gene syndrome, characterized by intellectual disability, facial dysmorphisms, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient infantile hypercalcemia. Genes lying telomeric to RFC2, including CLIP2, GTF2I a...

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Autors principals: Vandeweyer, Geert, Van der Aa, Nathalie, Reyniers, Edwin, Kooy, R. Frank
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2012
Matèries:
Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3370266/
https://ncbi.nlm.nih.gov/pubmed/22608712
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.04.020
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