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

• Main Authors: Gecz Jozef (Author), Liebelt Jan E (Author), Laurie Kate J (Author), Hattersley Kathryn (Author), Durkin Shane R (Author), Craig Jamie E (Author), Burdon Kathryn P (Author)
• Format: Book
• Published: BMC, 2010-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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...