CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation: A case report and review of literature

RATIONALE: Mutations of connector enhancer of kinase suppressor of Ras-2 (CNKSR2) gene were identified as the cause of Houge type of X-linked syndromic mental retardation. The mutations of CNKSR2 gene are rare, we reporta patient carrying a novel nonsense mutation of CNKSR2,c.625C > T(p.Gln209(∗)...

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Detalles Bibliográficos
Autores principales: Kang, Qingyun, Yang, Liming, Liao, Hongmei, Wu, Liwen, Chen, Bo, Yang, Sai, Kuang, Xiaojun, Yang, Haiyang, Liao, Caishi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8202604/
https://www.ncbi.nlm.nih.gov/pubmed/34114993
http://dx.doi.org/10.1097/MD.0000000000026093

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8202604/
https://www.ncbi.nlm.nih.gov/pubmed/34114993
http://dx.doi.org/10.1097/MD.0000000000026093

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