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Article

An ACVR1R375P pathogenic variant in two families with mild fibrodysplasia ossificans progressiva.

American journal of medical genetics. Part A - 1 Mar 2022

Kaplan Frederick S, Groppe Jay C, Xu Meiqi, Towler O Will, Grunvald Eduardo, Kalunian Kenneth, Kallish Staci, Al Mukaddam Mona, Pignolo Robert J, Shore Eileen M

Abstract excerpt

Genetic variants are vital in informing clinical phenotypes, aiding physical diagnosis, guiding genetic counseling, understanding the molecular basis of disease, and potentially stimulating drug development. Here we describe two families with an ultrarare ACVR1 gain-of-function pathogenic variant (codon 375, Arginine > Proline; ACVR1R375P ) responsible for a mild nonclassic fibrodysplasia ossificans progressiva...

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PMID: 34854557
DOI: 10.1002/ajmg.a.62585

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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