A New Diagnosis of Williams-Beuren Syndrome in a 49-year-old Man with Severe Bullous Emphysema

Williams-Beuren Syndrome (WBS) is a chromosomal microdeletion syndrome typically presenting with intellectual disability, a unique personality, a characteristic facial appearance, and cardiovascular disease. Several clinical features of WBS are thought to be due to haploinsufficiency of elastin (ELN...

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Bibliografiske detaljer
Udgivet i:Am J Med Genet A
Main Authors: Wojcik, Monica H, Carmichael, Nikkola, Bieber, Frederick R, Wiener, Daniel C, Madan, Rachna, Pober, Barbara R, Raby, Benjamin A
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5509496/
https://ncbi.nlm.nih.gov/pubmed/28574231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38289
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