Rett Syndrome in Males: The Different Clinical Course in Two Brothers with the Same Microduplication MECP2 Xq28

Rett syndrome (RTT) is a neurodevelopmental disorder with a genetic basis that is associated with the mutation of the X-linked methyl-CpG binding protein 2 (MECP2) gene in approximately 90% of patients. RTT is characterized by a brief period of normal development followed by loss of acquired skills...

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Veröffentlicht in:	International journal of environmental research and public health 2019-08, Vol.16 (17), p.3075
Hauptverfasser:	Pitzianti, Maria Bernarda, Santamaria Palombo, Angelo, Esposito, Susanna, Pasini, Augusto
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenoid Age Airway management Births Brain research Case Report Child Chromosomes Constipation Convulsions & seizures Delay Deoxyribonucleic acid DNA DNA methylation Dosage Compensation, Genetic Epigenetics Epilepsy Esophageal sphincter Esophagus Females Gastroesophageal reflux Gene expression Genomes Humans Hypertrophy Inactivation Infections Intellectual disabilities Language Male Males MeCP2 protein Methyl-CpG binding protein Methyl-CpG-Binding Protein 2 - genetics Methyl-CpG-Binding Protein 2 - physiology Mutation NMR Nuclear magnetic resonance Patient Outcome Assessment Patients Rett syndrome Rett Syndrome - genetics Scoliosis Seizures Siblings Sleep Sphincter Thymus X Chromosome Inactivation - genetics X Chromosome Inactivation - physiology
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