Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

Lancet

Volumn 356, Issue 9232, 2000, Pages 830-832

  Clayton Smith, J ^a   Watson, P ^a   Ramsden, S ^a   Black, G C M ^a,b  

^a St Mary's Hospital   (United Kingdom)

^b MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME MOSAICISM; DISEASE SEVERITY; GENE MUTATION; GENE SILENCING; HUMAN; LETHALITY; MALE; MOTOR DYSFUNCTION; NERVE CELL DIFFERENTIATION; PRIORITY JOURNAL; RETT SYNDROME; SEQUENCE ANALYSIS;

EID: 0034596477     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(00)02661-1     Document Type: Article

References (5)

1. A Clarke Rett Syndrome J Med Genet 33 1996 693 699
2. RE Amir IB Van den Veyver M Wan CQ Tran U Francke HY Zoghbi Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nat Genet 23 1999 185 188
3. X Nan HH Ng CA Johnson Transcriptional repression by methyl-CpG-binding protein MECP2 involves a histone deacetylase complex Nature 393 1998 386 389
4. JS Schwartzman M Zatz Reis Vasquez L Dos Rett syndrome in a boy with a 47, XXY karyotype Am J Hum Genet 64 1999 1781 1785
5. C Schanen U Francke A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map Am J Hum Genet 63 1998 267 269