Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
Open Access
- 1 January 2002
- journal article
- case report
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 10 (1) , 77-81
- https://doi.org/10.1038/sj.ejhg.5200745
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- Somatic Mosaicism in Hemophilia A: A Fairly Common EventAmerican Journal of Human Genetics, 2001
- MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal OriginAmerican Journal of Human Genetics, 2001
- Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding proteinJournal of Medical Genetics, 2001
- A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in MalesAmerican Journal of Human Genetics, 2000
- Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG HotspotsAmerican Journal of Human Genetics, 1999
- A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion MapAmerican Journal of Human Genetics, 1998
- The Rett syndrome in malesBrain & Development, 1991
- Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.Journal of Medical Genetics, 1989
- Mosaicism for an Intragenic Deletion in a Boy with Mild Ornithine Transcarbamylase DeficiencyNew England Journal of Medicine, 1988
- A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 casesAnnals of Neurology, 1983