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A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.

Molecular biology reports - 3 Aug 2024

Amllal Nada, Zerkaoui Maria, Jdioui Wafaa, Elalaoui Siham Chafai, Sefiani Abdelaziz, Lyahyai Jaber

Abstract excerpt

BACKGROUND: Sotos syndrome is a rare and complex genetic disorder caused by haploinsufficiency of the NSD1 gene. This syndrome is characterized by rapid early childhood growth, distinct facial features, a learning disability, and multiple other developmental and behavioral challenges. METHODS AND RESULTS: In this work, we describe four Moroccan patients with variable clinical presentations of Sotos syndrome, in...

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PMID: 39096335
DOI: 10.1007/s11033-024-09829-3

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