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It is demonstrated that ZSWIM6 is a key transcriptional regulator and that allele-specific disturbances drive the marked clinical heterogeneity of ZSWIM6-related disorders.
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....
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....
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