Associated Papers
Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review.
Lu J et al.
International Journal of Ophthalmology, 2025
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
Features, genetics and their correlation in Jalili syndrome: a systematic review.
Daneshmandpour Y et al.
Journal of Medical Genetics, 2019
A new familial case of Jalili syndrome caused by a novel mutation in CNNM4.
Topçu V et al.
Ophthalmic Genetics, 0
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