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Article

Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype.

Clinical and experimental dermatology - 1 Jan 2017

Bursztejn A C, Baumann M, Lipsker D

Abstract excerpt

In 2012, a new Ehlers-Danlos (ED) variant, characterized by severe progressive kyphoscoliosis, neonatal myopathy and hearing loss, with normal urinary lysylpyridinoline to hydroxylysylpyridinoline ratio and most often a recurrent homozygous mutation in the FKBP14 gene, was reported. Because one of the major affected tissues in ED syndrome is the skin, recognition of the cutaneous features of this newly recognized...

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Source

Identifiers

PMID: 27905128
DOI: 10.1111/ced.12983

Genes

FKBP14

Provenance

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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