Associated Papers
Perforation of the Sigmoid Colon due to Diverticular Rupture in a Woman With FKBP14-Related Kyphoscoliotic Ehlers-Danlos Syndrome: A Case Report.
Foy M et al.
Clinical Case Reports, 2025
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
Colman M et al.
Human Mutation, 2022
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.
Dordoni C et al.
American Journal of Medical Genetics. Part A, 2016
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