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Article

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

Medicine - 11 Jun 2021

Kang Qingyun, Yang Liming, Liao Hongmei, Wu Liwen, Chen Bo, Yang Sai, Kuang Xiaojun, Yang Haiyang, Liao Caishi

Abstract excerpt

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∗) and review the clinical features and mutations of CNKSR2 gene for this rare condition considering previous literature....

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PMID: 34114993
DOI: 10.1097/MD.0000000000026093
PMCID: PMC8202604

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