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
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 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
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome.
Lim PJ et al.
Genes, 2019
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report.
Ruiz-Botero F et al.
Archivos Argentinos De Pediatria, 2019
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Giunta C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype.
Bursztejn AC et al.
Clinical and Experimental Dermatology, 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
Genotype-based databases for variants causing rare diseases.
Lanthaler B et al.
Gene, 2014
FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications.
Murray ML et al.
American Journal of Medical Genetics. Part A, 2014
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Baumann M et al.
American Journal of Human Genetics, 2012
[A case of von Recklinghausen's neurofibromatosis associated with Ehlers-Danlos syndrome].
De Angelis P et al.
La Pediatria, 1968
[Another case of Ehlers-Danlos syndrome].
CARTAGENA G et al.
Revista Espanola De Pediatria, 0