One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome

Mutations in the insulin receptor (INSR) gene are responsible for Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). Insulin resistance is a feature of both diseases. Our patient was a Chinese neonate suffering from abnormal glucose homeostasis, hyperinsulinemia, dry skin, heavy hair, growt...

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Detaylı Bibliyografya
Yayımlandı:J Clin Res Pediatr Endocrinol
Asıl Yazarlar: Chen, Xiang, Wang, Huijun, Wu, Bingbing, Dong, Xinran, Liu, Bo, Chen, Hongbo, Lu, Yulan, Zhou, Wenhao, Yang, Lin
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Galenos Publishing 2018
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5985390/
https://ncbi.nlm.nih.gov/pubmed/29082893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.5080
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