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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書誌詳細
主要な著者: Kilcoyne, S, Luscombe, C, Scully, P, Jayamohan, J, Magdum, S, Wall, S, Johnson, D, Wilkie, AOM
フォーマット: Journal article
言語:English
出版事項: Lippincott, Williams and Wilkins 2019