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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
(2010)
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 ...