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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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Bibliografische gegevens
Hoofdauteurs: Almashraki, Nabeel, Abdulnabee, Mukarram Zainuddin, Sukalo, Maja, Alrajoudi, Abdullah, Sharafadeen, Iman, Zenker, Martin
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Baishideng Publishing Group Co., Limited 2011
Onderwerpen:
Online toegang: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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