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Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene

✍ Scribed by HAGEBEUK, EVELINE E O; VAN DEN BOSSCHE, RENILDE A S; DE WEERD, AL W

Book ID: 120933364
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 340 KB
Volume: 55
Category: Article
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.2012.04432.x

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## Abstract Recently mutations in the gene __ZFHX1B__ (__SIP1__) were shown in patients with “syndromic Hirschsprung disease” with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if Hirschsprung disease is an obligate symptom of these mutations and if the distinc