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[Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2015

Su Yanhua, Xie Jiansheng, Yu Shanshan, Luo Hongyu, Wu Weiqing, Xu Zhiyong

Abstract excerpt

OBJECTIVE: To confirm the genetic diagnosis for providing services for genetic counseling and prenatal diagnosis, we analyzed the clinical and genetic data of a pedigree which is clinically diagnosed as Joubert syndrome. METHOD: A Joubert syndrome pedigree was enrolled as subject of this study from our hospital's outpatients in 2013. Following the medical history collection of the proband and the suffering fetus,...

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PMID: 26310553

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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