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Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.

Endokrynologia Polska - 1 Jan 2015

Moravej Hossein, Karamifar Hamdollah, Karamizadeh Zohreh, Amirhakimi Gholamhossein, Atashi Sepideh, Nasirabadi Shiva

Abstract excerpt

Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. According to the genotype, it has been classified into types 1 and 2. Recently, mutations in FKBP10, localised to chromosome 17q21, have been identified in some patients of Bruck syndrome. Twenty-seven patients of this syndrome have been reported so far. We present a new patient of this syndrome, with...

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Source

Identifiers

PMID: 25931047
DOI: 10.5603/EP.2015.0024

Genes

FKBP10

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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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