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Article

Multiple synostoses syndrome in three members of a family displaying a novel mutation in NOGGIN gene.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS - 1 Oct 2013

Aydin H Utkan, Altunoglu Umut, Uyguner Z Oya, Ozkan Turker, Kayserili Hulya

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23732071
DOI: 10.1016/j.bjps.2013.05.011

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Related research

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Multiple synostoses syndrome in three members of a family displaying a novel mutation in NOGGIN gene.PMID 23732071Read ↗

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Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.Semantic proximity Read ↗

Loss of function NOG variant causes radiounlar synostosisSemantic proximity Read ↗

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

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

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).Semantic proximity Read ↗

Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.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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