Novel pathogenic ACAN variants in non-syndromic short stature patients
Keywords: SEDK; spondyloepiphyseal dysplasia Kimberley type; OD; osteochondritis dissecans; SEMD; spondyloepimetaphyseal dysplasia; ISS; idiopathic short stature; rhGH; Recombinant human growth hormone; OA; osteoarthritis; pLI; probability of Loss of Function intol