Language development, hearing loss, and intracranial hypertension in children with TWIST1-confirmed Saethre-Chotzen syndrome

<p>Saethre-Chotzen syndrome (SCS) is an autosomal dominant condition defined by mutations affecting the TWIST1 gene on chromosome 7p21.1. Previous research has identified an elevated prevalence of intracranial hypertension and hearing impairment associated with this syndrome. This study aimed...

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Detalles Bibliográficos
Autores principales: Kilcoyne, S, Luscombe, C, Scully, P, Jayamohan, J, Magdum, S, Wall, S, Johnson, D, Wilkie, AOM
Formato: Journal article
Lenguaje:English
Publicado: Lippincott, Williams and Wilkins 2019