INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report

Severe insulin receptor gene (INSR)-related insulin resistance syndromes (SIR) include Donohue syndrome (DS), Rabson–Mendenhall syndrome (RMS), and type A insulin resistance. The incidence of DS is about 1 in 4 million births. We identified novel INSR mutations (c.2246delG and c.2646 + 5G > A) in...

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Detalles Bibliográficos
Autores principales: Yu, Lu, Yu, Fang, Ma, Zongrui, Lu, Huilin, Luo, Jian, Sun, Ting, Liu, Qin, Gan, Shenglian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
4300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9750703/
https://www.ncbi.nlm.nih.gov/pubmed/36626508
http://dx.doi.org/10.1097/MD.0000000000032266

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9750703/
https://www.ncbi.nlm.nih.gov/pubmed/36626508
http://dx.doi.org/10.1097/MD.0000000000032266

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