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Article

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

BMC medical genetics - 6 Nov 2019

Ma Cong, Liu Lv, Wang Fang-Na, Tian Hai-Shen, Luo Yan, Yu Rong, Fan Liang-Liang, Li Ya-Li

Abstract excerpt

BACKGROUND: Proximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at least two types of proximal symphalangism have been identified in the clinic. One is proximal symphalangism-1A (SYM1A), which is caused by genetic variants in Noggin (NOG), another is proximal...

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Identifiers

PMID: 31694554
DOI: 10.1186/s12881-019-0917-5
PMCID: PMC6836329

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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