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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

Exclusion criteria included prematurity, being small for gestational age, neurological or psychiatric disorders, ADHD, movement disorders, syndromic short stature, additional pituitary hormone deficiency, known sleep disorder, known medical therapy for a chronic condition, or less than 6 months of growth hormone treatment

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