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Article

Presentation of Rare Phenotypes Associated with the FKBP10 Gene.

Genes - 23 May 2024

Merkuryeva Elena S, Markova Tatiana V, Kenis Vladimir M, Agranovich Olga E, Dan Ivan M, Kotalevskaya Yulia Y, Shchagina Olga A, Ryzhkova Oxana P, Fomenko Sergei S, Dadali Elena L, Kutsev Sergey I

Abstract excerpt

Pathogenic variants in the FKBP10 gene lead to a spectrum of rare autosomal recessive phenotypes, including osteogenesis imperfecta (OI) Type XI, Bruck syndrome Type I (BS I), and the congenital arthrogryposis-like phenotype (AG), each with variable clinical manifestations that are crucial for diagnosis. This study analyzed the clinical-genetic characteristics of patients with these conditions, focusing on both...

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Identifiers

PMID: 38927610
DOI: 10.3390/genes15060674
PMCID: PMC11202786

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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