2 results match your criteria: "China. xiaow@sj-hospital.org.[Affiliation]"
Clinical and genetic findings in patients with congenital cataract and heart diseases.
Orphanet J Rare Dis
May 2021
Department of Ophthalmology, Shengjing Hospital of China Medical University, Shenyang, 110004, Liaoning, China.
Article Synopsis
- Congenital cataract (CC) and congenital heart disease (CHD) often occur together, affecting a significant percentage of patients; in a study of 334 CC patients, 41.13% also had CHD.
- Patients with both CC and CHD had a higher incidence of preterm births and Down's syndrome, with atrial septal defect being the most common heart defect observed.
- Genomic analysis, including microarray and whole-exome sequencing in 10 families, revealed 52 genomic alterations tied to CC and CHD, with many being de novo variants.
A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family.
BMC Med Genet
October 2018
Department of Ophthalmology, Shengjing Hospital, China Medical University, Shenyang, 110004, Liaoning, China.
Background: Congenital cataract is the leading cause of blindness in children worldwide. Approximately half of all congenital cataracts have a genetic basis. Protein aggregation is the single most important factor in cataract formation.
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