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Article

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

Proceedings of the National Academy of Sciences of the United States of America - 5 Jan 2010

Xin Baozhong, Puffenberger Erik G, Turben Susan, Tan Haiyan, Zhou Aimin, Wang Heng

Abstract excerpt

We identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. The typical craniofacial dysmorphism included brachycephaly, highly arc...

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Source

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Identifiers

PMID: 20018682
DOI: 10.1073/pnas.0908457107
PMCID: PMC2806776

Genes

TMCO1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20018682-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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