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Sotos Syndrome Type 1 and Type 2: Case Series of 4 Pediatric Patients with Variants in NSD1 and NFIX Genes

Afërdita Tako Kumaraku, Kristi Aleksi, Aida Bushati, Armand Shehu, Sonila Tomori, Laurant Kollçaku, Agim Gjikopulli, Renald Meçani & Paskal Cullufi · Journal of Advances in Medicine and Medical Research · 2023

Sotos syndrome is a rare genetic disorder with autosomal dominant inheritance, marked by overgrowth with macrocephaly, a distinctive facial appearance, and intellectual impairment. It occurs due to pathogenic variants encompassing the NSD1 gene. In addition, Sotos-like syndromes...