Describing the phenotype in Rett syndrome using a population database

Background: Mutations in the MECP2 gene have been recently identified as the cause of Rett syndrome, prompting research into genotype-phenotype relations. However, despite these genetic advances there has been little descriptive epidemiology of the full range of phenotypes. Aims: To describe the var...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Colvin, L, Fyfe, S, Leonard, S, Schiavello, T, Ellaway, C, de Klerk, N, Christodoulou, J, Msall, M, Leonard, H
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2003
Pynciau:
Original Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1719276/
https://ncbi.nlm.nih.gov/pubmed/12495959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.88.1.38
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