Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked
gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification …

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively
girls. It is currently considered a monogenic X-linked dominant disorder due to mutations in …

Background: Rett syndrome is a severe neurodevelopmental disorder, almost exclusively
affecting females and characterised by a wide spectrum of clinical manifestations. Both the …

COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive
Alport syndrome. Background Mutations of the type IV collagen COL4A5 gene cause X …

Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe
neurodevelopmental disorder of young females. Only one male presenting an MECP2 …

Urban sustainability plays a central role in the implementation of the UN Sustainable
Development Goals (SDGs) at the local level. The emphasis on major interventions, and …

X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop
cognitive abilities, owing to mutations in a gene on the X chromosome. The latest XLMR …

The most common and aggressive brain tumor in the adult population is glioblastoma
(GBM). The lifespan of patients does not exceed 22 months. One of the reasons for the low …

Mutations in the MECP2 gene cause the severe neurodevelopmental disorder called Rett
syndrome. Preliminary evidence suggests that MECP2 may be involved in a broader …

The preserved speech variant is the milder form of Rett syndrome: affected girls show the
same stages of this condition and by the second half of the first decade are making slow …