Associated Papers
Surgical management of progressive spinal deformities in FKBP14-associated Ehlers-Danlos syndrome: a case report and literature review.
DeMessie B et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2025
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Middle_priority
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
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