Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients

Author:

Tao JingORCID,Luo JingyiORCID,Li Kaijing,Yang Runcai,Lin Yixiu,Ge Jian

Publisher

Elsevier BV

Reference55 articles.

1. The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56;Almoallem;Sci. Rep.,2020

2. Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia;Ammar;Ophthalmic Genet.,2017

3. A global reference for human genetic variation;Auton;Nature,2015

4. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation;Ayala-Ramirez;Mol. Vis.,2006

5. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene;Boon;Prog. Retin. Eye Res.,2009

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