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Article

Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome.

Clinical dysmorphology - 1 Apr 2010

Su Pen-Hua, Chen Jia-Yuh, Chiang Chin-Lung, Ng Yan-Yan, Chen Suh-Jen

Abstract excerpt

Cerebro-costo-mandibular syndrome (CCMS) is an uncommon multiple congenital anomaly syndrome characterized by severe micrognathia, posterior rib-gap defects, and developmental delay. The cause of CCMS is unknown. Genes hypothesized to have a causal role in CCMS, include myogenic factor 5 (MYF5),...

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Source

Identifiers

PMID: 20177378
DOI: 10.1097/MCD.0b013e328335c133

Genes

GSC
MYF5
RUNX2
TCOF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20177378-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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