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Johanson-Blizzard syndrome

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroi...

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Detalhes bibliográficos
Main Authors: Almashraki, Nabeel, Abdulnabee, Mukarram Zainuddin, Sukalo, Maja, Alrajoudi, Abdullah, Sharafadeen, Iman, Zenker, Martin
Formato: Artigo
Idioma:Inglês
Publicado em: Baishideng Publishing Group Co., Limited 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3208372/
https://ncbi.nlm.nih.gov/pubmed/22072859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3748/wjg.v17.i37.4247
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