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Article

A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.

Calcified tissue international - 1 Apr 2023

Ryabets-Lienhard Anna, Panjawatanan Panadeekarn, Vogt Kyle, Ji Jianling, Georgia Senta, Pitukcheewanont Pisit

Abstract excerpt

INTRODUCTION: Progressive osseous heteroplasia (POH) is a rare, debilitating disorder characterized by heterotopic ossification in the skin and muscles, resulting in contractures of the joints and progressive loss of function. While 60-70% of the POH patients have paternally inherited, inactivating pathogenic variants in GNAS, the remaining 30-40% have no known etiology. FAM111B pathogenic variants, located on...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36575358
DOI: 10.1007/s00223-022-01053-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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