De novo deletion in MECP2 in a monozygotic twin pair: a case report

BACKGROUND: Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder predominantly observed in females that leads to intellectual disability. Mutations and gross rearrangements in MECP2 account for a large proportion of cases with RTT. A limited number of twin pairs with RTT have al...

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Detalles Bibliográficos
Autores principales: Mittal, Kirti, Kabra, Madhulika, Juyal, Ramesh, BK, Thelma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3176152/
https://www.ncbi.nlm.nih.gov/pubmed/21871116
http://dx.doi.org/10.1186/1471-2350-12-113

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3176152/
https://www.ncbi.nlm.nih.gov/pubmed/21871116
http://dx.doi.org/10.1186/1471-2350-12-113

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