ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018

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.

Cecilia Giunta et al.PubMed ↗Full text ↗Publisher ↗

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