A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy.

Shijing WuZhisheng YuanZixi SunTian ZhuXing WeiXuan ZouRuifang Sui

Published in: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2021)

A novel large tandem duplication in MCDR1 locus was confirmed in a Chinese family with NCMD with a variety of macular phenotypes.

Keyphrases

optical coherence tomography
diabetic retinopathy
cataract surgery
age related macular degeneration
early onset
genome wide association study