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

• Những tác giả chính: Gecz Jozef (Tác giả), Liebelt Jan E (Tác giả), Laurie Kate J (Tác giả), Hattersley Kathryn (Tác giả), Durkin Shane R (Tác giả), Craig Jamie E (Tác giả), Burdon Kathryn P (Tác giả)
• Định dạng: Sách
• Được phát hành: BMC, 2010-11-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: 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...