Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome

Sotos syndrome previously known as cerebral gigantism is a genetic disease characterized by excessive growth from the prenatal stage to childhood, accompanied with distinctive facial dysmorphism (broad and prominent forehead, hypertelorism, downward-slanting palpebral fissures, and a pointed chin),...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Jean Pascal Demba Diop, Aminata Mbaye, Karamba Diallo, Eric Pasmant, Seydi Abdoul Ba, Adama Sene, Michele Videau, Rokhaya Ndiaye Diallo
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Elsevier 2026-03-01
Σειρά:	Journal of Genetic Engineering and Biotechnology
Θέματα:	Sotos syndrome NSD1 gene Frameshift mutation Senegal
Διαθέσιμο Online:	http://www.sciencedirect.com/science/article/pii/S1687157X25001866
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