Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani Siblings

Wolcott-Rallison syndrome (WRS) is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. WRS, although rare, is recognized to be the most frequent cause of neonatal-onset diabetes. The majority of reported patients are from consanguineous...

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Vydáno v:Oman Med J
Hlavní autoři: Al-Sinani, Siham, Al-Yaarubi, Saif, Sharef, Sharef Waadallah, Al-Murshedi, Fathyia, Al-Maamari, Watfa
Médium: Artigo
Jazyk:Inglês
Vydáno: OMJ 2015
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4412448/
https://ncbi.nlm.nih.gov/pubmed/25960841
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5001/omj.2015.29
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