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Article

Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3).

PloS one - 1 Jan 2013

Lu Yanping, Peng Hongmei, Jin Zhanguo, Cheng Jing, Wang Shufang, Ma Minyue, Lu Yu, Han Dongyi, Yao Yuanqing, Li Yali, Yuan Huijun

Abstract excerpt

Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. Her...

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Identifiers

PMID: 24039893
DOI: 10.1371/journal.pone.0073245
PMCID: PMC3764130

Genes

PGD
TMEM67

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24039893-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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