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Article

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.

American journal of medical genetics. Part A - 1 Aug 2016

Dordoni Chiara, Ciaccio Claudia, Venturini Marina, Calzavara-Pinton Piergiacomo, Ritelli Marco, Colombi Marina

Abstract excerpt

FKBP14-related Ehlers-Danlos syndrome (EDS) is an extremely rare recessive connective tissue disorder described for the first time in 2012 by Baumann and coworkers. The causal gene, FKBP14, encodes a member of the F506-binding family of peptidyl-prolyl cis-trans isomerases. The paucity of patients described so far makes this disorder poorly defined at clinical level. Here, we report an additional pediatric...

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Identifiers

PMID: 27149304
DOI: 10.1002/ajmg.a.37728

Genes

FKBP14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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