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
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Whole Exome Sequencing Reveals Candidate Variants in Ion Channel Genes for Pelvic Muscle Dysfunction in Young Females with a Family History.
Sadakierska-Chudy A et al.
International Urogynecology Journal, 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
Genetic diagnosis of the Ehlers-Danlos syndromes.
Zschocke J et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2024
Unravelling the genetic landscape of cervical insufficiency: Insights into connective tissue dysfunction and hormonal pathways.
Voložonoka L et al.
Plos One, 2024
FKBP14 kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case report.
Wiegand A et al.
Cold Spring Harbor Molecular Case Studies, 2023
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
Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.
Castronovo P et al.
Genes, 2022
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.
Semyachkina AN et al.
F1000research, 2021
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.
Ishikawa Y et al.
Scientific Reports, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.
Castori M et al.
American Journal of Medical Genetics. Part A, 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
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Codina-Solà M et al.
Molecular Autism, 2015
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