Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency, and is characterized by hypoplastic nasal alae, mental retardation, sensorineural hearing loss, short stature, scalp defects, dental abnormalities and abnormal hair patterns. G...

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Detalhes bibliográficos
Main Authors: Alkhouri, Naim, Kaplan, Barbara, Kay, Marsha, Shealy, Amy, Crowe, Carol, Bauhuber, Susanne, Zenker, Martin
Formato: Artigo
Idioma:Inglês
Publicado em: The WJG Press and Baishideng 2008
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2773884/
https://ncbi.nlm.nih.gov/pubmed/19058315
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3748/wjg.14.6863
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