Supplemental Material for: Homozygous variants inZSWIM6 cause severe syndromic short statureand developmental delay
IntroductionWe 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 staturewith biochemical features of growth hormone (GH) deficiency, microcephaly, and developmental delay....
figshare admin karger, Shenali Anne Amaratunga, Martin Bezdicka et al.
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