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

• मुख्य लेखकों: Gecz Jozef (लेखक), Liebelt Jan E (लेखक), Laurie Kate J (लेखक), Hattersley Kathryn (लेखक), Durkin Shane R (लेखक), Craig Jamie E (लेखक), Burdon Kathryn P (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2010-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...