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A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32

BACKGROUND: A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent. Large scale chromosomal re-arrangements had previously been ruled out. We have conducted a genome-w...

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Detalhes bibliográficos
Main Authors: Hattersley, Kathryn, Laurie, Kate J, Liebelt, Jan E, Gecz, Jozef, Durkin, Shane R, Craig, Jamie E, Burdon, Kathryn P
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2995478/
https://ncbi.nlm.nih.gov/pubmed/21092079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-165
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