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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Galenos Publishing
2017
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| Materias: | |
| 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 |