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...
Hlavní autoři: | Kilcoyne, S, Luscombe, C, Scully, P, Jayamohan, J, Magdum, S, Wall, S, Johnson, D, Wilkie, AOM |
---|---|
Médium: | Journal article |
Jazyk: | English |
Vydáno: |
Lippincott, Williams and Wilkins
2019
|
Podobné jednotky
-
Intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome
Autor: Woods, R, a další
Vydáno: (2009) -
Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.
Autor: Woods, R, a další
Vydáno: (2009) -
Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome
Autor: Zhou, Y, a další
Vydáno: (2018) -
Síndrome de Saethre-Chotzen
Autor: Elayne Esther Santana Hernández, a další -
P362: Chromosomal 7p deletion associated with Saethre-Chotzen syndrome
Autor: Milena Fraustro, a další
Vydáno: (2024-01-01)