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Novel homozygous mutations in TXNDC15 causing Meckel syndrome.

Molecular genetics & genomic medicine - 1 Mar 2024

Deng Tianqin, Xie Yuli

Abstract excerpt

BACKGROUND: Meckel syndrome (MKS) is the most severe form of an autosomal recessive ciliopathy and is clinically characterized by occipital encephalocele, severely polycystic kidneys, and postaxial polydactyly (toes). The association of TXNDC15-related MKS has been reported. We report the case of a homozygous mutation in the TXNDC15 gene, causing MKS14 in the Chinese population. METHODS: The fetal skin tissue and...

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Identifiers

PMID: 38156946
DOI: 10.1002/mgg3.2343
PMCID: PMC10958169

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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