A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans

Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder due to mutations in the insulin receptor gene (INSR) which is mapped to 19p13.2. RMS is characterized by acanthosis nigricans, generalized lanugo, tooth and nail dysplasia, high nasal bridge, and growth retardation. A 5-year-old fem...

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Bibliografiske detaljer
Udgivet i:J Clin Res Pediatr Endocrinol
Main Authors: Tuhan, Hale, Ceylaner, Serdar, Nalbantoğlu, Özlem, Acar, Sezer, Abacı, Ayhan, Böber, Ece, Demir, Korcan
Format: Artigo
Sprog:Inglês
Udgivet: Galenos Publishing 2017
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5785646/
https://ncbi.nlm.nih.gov/pubmed/28663160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.4577
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