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Article

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.

American journal of medical genetics. Part A - 15 Apr 2007

Smyk M, Obersztyn E, Nowakowska B, Bocian E, Cheung S W, Mazurczak T, Stankiewicz P

Abstract excerpt

Haploinsufficiency of SOX9, a master gene in chondrogenesis and testis development, leads to the semi-lethal skeletal malformation syndrome campomelic dysplasia (CD), with or without XY sex reversal. We report on two children with CD and a phenotypically normal father, a carrier of a somatic mosa...

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Source

Identifiers

PMID: 17352389
DOI: 10.1002/ajmg.a.31631

Genes

SOX9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17352389-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.PMID 17352389Read ↗

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Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.Semantic proximity Read ↗

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.Semantic proximity Read ↗

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