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Article

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.

Human mutation - 1 Mar 2002

Mangino M, Flex E, Digilio M C, Giannotti A, Dallapiccola B

Abstract excerpt

Symphalangism (SYM or SYM1) is an autosomal dominant disorder characterized by multiple joint fusions. The disease is caused by mutations of the NOG gene, that maps to chromosome 17q22. So far, only six independent NOG mutations have been identified. We have analysed an Italian family in which fa...

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Source

Identifiers

PMID: 11857750
DOI: 10.1002/humu.9016

Genes

NOG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11857750-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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