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Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.

Birth defects research. Part A, Clinical and molecular teratology - 1 Jun 2015

Badura-Stronka Magdalena, Mróz Dariusz, Beighton Peter, Łukawiecki Sebastian, Wicher Katarzyna, Latos-Bieleńska Anna, Kozłowski Kazimierz

Abstract excerpt

BACKGROUND: Lehmann et al., [2003, 2006] have documented two different substitutions at position 486 of the BMPR1B gene which resulted in a phenotype of brachydactyly A2 [MIM 112600] or brachydactyly C with symphalangism [MIM 113100]. METHODS: In this article we report a family of Polish extracti...

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PMID: 25776145
DOI: 10.1002/bdra.23354

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25776145-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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