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Article

Familial campomelic dysplasia due to maternal germinal mosaicism.

Congenital anomalies - 1 Nov 2018

Higeta Daisuke, Yamaguchi Rie, Takagi Takeshi, Nishimura Gen, Sameshima Kiyoko, Saito Kayoko, Minegishi Takashi

Abstract excerpt

Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous SOX9 mutations. Most patients are sporadic due to a de novo mutation. Familial campomelic dysplasia is very rare. We report on a familial campomelic dysplasia caused by maternal germinal mosaicism. Two siblings showed the classic campomelic dysplasia phenotype with a novel SOX9 mutation (NM_000346.3: c.441delC,...

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Source

Identifiers

PMID: 29542186
DOI: 10.1111/cga.12279

Genes

SOX9

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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