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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Bibliografiska uppgifter
Huvudupphovsmän: Alkhouri, Naim, Kaplan, Barbara, Kay, Marsha, Shealy, Amy, Crowe, Carol, Bauhuber, Susanne, Zenker, Martin
Materialtyp: Artigo
Språk:Inglês
Publicerad: The WJG Press and Baishideng 2008
Ämnen:
Case Report
Länkar: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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