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Article

Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review.

Science progress - 1 Jan 2024

Fan Xinmiao, Yang Tengyu, Lu Xiaoping, Chen Yu, Chen Xiaowei

Abstract excerpt

Treacher Collins syndrome (TCS) is a rare congenital craniofacial disorder, typically inherited as an autosomal dominant condition. Here, we report on a family in which germline mosaicism for TCS was likely present. The proband was diagnosed with TCS based on the typical clinical features and a pathogenic variant TCOF1 (c.4369_4373delAAGAA, p.K1457Efs*12). The mutation was not detected in his parents' peripheral...

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Source

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Identifiers

PMID: 38629201
DOI: 10.1177/00368504241242278
PMCID: PMC11025436

Genes

TCOF1

Variants

Provenance

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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