Ondrej Soucek

Homozygous variants in ZSWIM6 cause severe syndromic short stature and developmental delay.

Introduction We investigated two siblings from a consanguineous Kurdish family presenting with a specific facial phenotype (prominent forehead, supraorbital ridges, broad nose, depressed nasal bridge), severe short stature with biochemical features of growth hormone (GH) deficiency, microcephaly, and developmental dela...