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Sotos syndrome: A case report of 1st genetically proven case from Saudi Arabia with a novel mutation in NSD1 gene

RATIONALE: Sotos syndrome is a rare genetic disorder characterized by rapid growth during infancy and childhood; ≥2 SD for height and head circumference; distinctive facial appearance and developmental delay. Ten clinically diagnosed cases have been reported from Saudi Arabia; none of them was genet...

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Detalles Bibliográficos
Autores principales:	Kamal, Naglaa M., Althobiti, Jwaher M., Alsaedi, Abdulaziz, Bakkar, Ayman, Alkaabi, Tahani
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392717/ https://www.ncbi.nlm.nih.gov/pubmed/30461603 http://dx.doi.org/10.1097/MD.0000000000012867

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