Genomic analysis of a child with Down syndrome-related congenital cataract

Clin Dysmorphol. 2013 Jul;22(3):129-131. doi: 10.1097/MCD.0b013e328361de5a.

Authors

Arif O Khan¹, Altaf A Kondkar, Khaled K Abu-Amero

Affiliation

¹ Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, Florida, USA.

PMID: 23629692
DOI: 10.1097/MCD.0b013e328361de5a

No abstract available

Publication types

Case Reports

MeSH terms

Cataract / congenital*
Cataract / genetics*
Chromosomes, Human, Pair 20 / genetics
Chromosomes, Human, Pair 21 / genetics
Crystallins / genetics
Down Syndrome / genetics*
Female
Gene Deletion
Humans
Infant

Substances

CRYAA protein, human
Crystallins