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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Detalles Bibliográficos
Autores principales: Hattersley, Kathryn, Laurie, Kate J, Liebelt, Jan E, Gecz, Jozef, Durkin, Shane R, Craig, Jamie E, Burdon, Kathryn P
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995478/
https://www.ncbi.nlm.nih.gov/pubmed/21092079
http://dx.doi.org/10.1186/1471-2350-11-165

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995478/
https://www.ncbi.nlm.nih.gov/pubmed/21092079
http://dx.doi.org/10.1186/1471-2350-11-165

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