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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Detalles Bibliográficos
Autores principales: Tuhan, Hale, Ceylaner, Serdar, Nalbantoğlu, Özlem, Acar, Sezer, Abacı, Ayhan, Böber, Ece, Demir, Korcan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785646/
https://www.ncbi.nlm.nih.gov/pubmed/28663160
http://dx.doi.org/10.4274/jcrpe.4577

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785646/
https://www.ncbi.nlm.nih.gov/pubmed/28663160
http://dx.doi.org/10.4274/jcrpe.4577

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