Gene symbol: MECP2. Disease: Rett syndrome (atypical).
Penagarikano
O
O
Emory University School of Medicine, Department of Human Genetics, Atlanta, GA 30322, USA. openaga@genetics.emory.edu
Martinez-Bouzas
Cristina
C
Mínguez
Mónica
M
Sanz-Parra
Arantza
A
García-Alegría
Eva
E
Beristain
Elena
E
Tejada
M Isabel
MI
D000293:Adolescent; D019943:Amino Acid Substitution; D018389:Codon, Nonsense; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007859:Learning Disabilities / Q000209:etiology; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D020125:Mutation, Missense; D010641:Phenotype; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics*; D012720:Severity of Illness Index
D018389:Codon, Nonsense; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2