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Article

FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications.

American journal of medical genetics. Part A - 1 Jul 2014

Murray Mitzi L, Yang Margaret, Fauth Christine, Byers Peter H

Abstract excerpt

Biallelic mutations in FKBP14 cause a recessive form of Ehlers-Danlos syndrome (EDS) characterized by progressive kyphoscoliosis, myopathy, and hearing loss. To date, four children and one adult with this condition have been reported. We recently identified a 42-year-old man with severe kyphoscoliosis, restrictive/obstructive lung disease, short stature, mild hearing loss, decreased muscle mass, and a dissection...

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Source

Identifiers

PMID: 24677762
DOI: 10.1002/ajmg.a.36492

Genes

FKBP14
ACTA2
SMAD3
TGFBR1
TGFBR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications.PMID 24677762Read ↗

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FKBP14 kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case report.Semantic proximity Read ↗

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Vascular aspects of the Ehlers-Danlos Syndromes.Semantic proximity Read ↗

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Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.Semantic proximity Read ↗

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