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, Cecilia

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. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 01 2018 - 42-54 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

1530-0366

10.1038/gim.2017.70 doi


Alleles
Child
Child, Preschool
Chromosome Mapping
Cohort Studies
DNA Mutational Analysis
Ehlers-Danlos Syndrome--diagnosis
Female
Genetic Association Studies
Humans
Magnetic Resonance Angiography
Magnetic Resonance Imaging
Male
Mutation
Peptidylprolyl Isomerase--genetics
Phenotype