L Cooper‐Brown, S Copeland, S Dailey… - Developmental …, 2008 - Wiley Online Library
Children with genetic syndromes frequently have feeding problems and swallowing dysfunction as a result of the complex interactions between anatomical, medical …
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large …
P Moretti, JA Bouwknecht, R Teague… - Human molecular …, 2005 - academic.oup.com
Rett syndrome (RTT) is an autistic spectrum disorder with a known genetic basis. RTT is caused by loss of function mutations in the X-linked gene MECP2 and is characterized by …
EEJ Smeets, K Pelc, B Dan - Molecular syndromology, 2012 - karger.com
Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and …
L Villard - Journal of medical genetics, 2007 - jmg.bmj.com
Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10 000 female births, and it is a prominent cause of …
MD Shahbazian, HY Zoghbi - The American Journal of Human Genetics, 2002 - cell.com
Rett syndrome (RTT [MIM# 312750]) was discovered when two girls who exhibited the same unusual behaviors happened to be seated next to each other in the waiting room of Andreas …
JL Neul, HY Zoghbi - The Neuroscientist, 2004 - journals.sagepub.com
Rett syndrome, one of the leading causes of mental retardation and developmental regression in girls, is the first pervasive developmental disorder with a known genetic cause …
RA Fabio, L Billeci, G Crifaci, E Troise… - Research in …, 2016 - Elsevier
Rett syndrome (RS) is a childhood neurodevelopmental disorder characterized by a primary disturbance in neuronal development. Neurological abnormalities in RS are reflected in …
C Schanen, EJF Houwink, N Dorrani… - American Journal of …, 2004 - Wiley Online Library
Since the identification of mutations in MECP2 in girls and women with apparent Rett syndrome, numerous efforts have been made to develop phenotype‐genotype correlations …