Classic rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation [4]

Annals of Neurology

Volumn 50, Issue 5, 2001, Pages 692-

  Armstrong, Judith ^a   Poo, Pilar ^b   Pineda, Merceand ^b   Aibar, Elena ^a   Gean, Esther ^a   Catalaand, Vicenc ^c   Monros, Eugeandnia ^a  

^a Genetics Section   (Spain)

^b HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^c Prenatal Genetics   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; CASE REPORT; CHROMOSOME XQ; CLINICAL EXAMINATION; GENE MAPPING; GENE MUTATION; HUMAN; LETTER; MALE; MOSAICISM; PRIORITY JOURNAL; RETT SYNDROME;

ADOLESCENT; CHROMOSOMAL PROTEINS, NON-HISTONE; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; KLINEFELTER SYNDROME; MALE; METHYL-CPG-BINDING PROTEIN 2; MOSAICISM; MUTATION; POLYMERASE CHAIN REACTION; REPRESSOR PROTEINS; RETT SYNDROME; X CHROMOSOME;

EID: 0034761333     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.1272     Document Type: Letter

References (6)

1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
2. Rett Syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
3. Two affected boys in a Rett syndrome family
4. MECP2 is highly mutated in X-linked mental retardation
5. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
6. Genotype and phenotype evaluation of MeCP2 mutations in Rett syndrome