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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Vydáno v:J Clin Res Pediatr Endocrinol
Hlavní autoři: Tuhan, Hale, Ceylaner, Serdar, Nalbantoğlu, Özlem, Acar, Sezer, Abacı, Ayhan, Böber, Ece, Demir, Korcan
Médium: Artigo
Jazyk:Inglês
Vydáno: Galenos Publishing 2017
Témata:
Case Report
On-line přístup: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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