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Article

Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations.

Joint bone spine - 1 Dec 2014

Lee Beom Hee, Kim Ok-Hwa, Yoon Hye-Kyung, Kim Jae-Min, Park Kunbo, Yoo Han-Wook

Abstract excerpt

Multiple synostosis syndrome (SYNS) is an autosomal dominant skeletal disorder characterized by facial dysmorphism, progressive fusion of multiple joints, and conductive hearing loss. Currently, three genes, NOG, GDF5, and FGF9, have been identified as causative of SYNS. However, due to the phenotypic and genotypic heterogeneity of SYNS, as well as its extreme rarity, it is difficult to diagnose, either by...

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Source

Identifiers

PMID: 25241334
DOI: 10.1016/j.jbspin.2014.07.006

Genes

NOG
FGF9
GDF5

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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