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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التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Kilcoyne, S, Luscombe, C, Scully, P, Jayamohan, J, Magdum, S, Wall, S, Johnson, D, Wilkie, AOM
التنسيق: Journal article
اللغة:English
منشور في: Lippincott, Williams and Wilkins 2019