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Article

Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome.

Clinical dysmorphology - 1 Jan 2013

van den Ende Jenneke J, Borra Vere, Van Hul Wim

Abstract excerpt

We report on a patient with a clinical phenotype showing all the features of the multiple synostoses syndrome or the facioaudiosymphalangism syndrome, including symphalangism, condunction deafness, and the typical facies. Previously, it was shown that this condition is genetically heterogeneous with initially mutations described in the NOG gene, coding for Noggin, an extracellular antagonist of bone morphogenetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22968293
DOI: 10.1097/MCD.0b013e3283590986

Genes

GDF5
NOG
FGF9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome.PMID 22968293Read ↗

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Multiple synostoses syndrome: Clinical report and retrospective analysis.Semantic proximity Read ↗

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.Semantic proximity Read ↗

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Multiple synostoses syndrome in three members of a family displaying a novel mutation in NOGGIN gene.Semantic proximity Read ↗

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.Semantic proximity Read ↗

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.Semantic proximity Read ↗

New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.Semantic proximity Read ↗

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Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations.Semantic proximity Read ↗

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.Semantic proximity Read ↗

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