
Novel biallelic compound heterozygous mutations in FDXR cause optic atrophy in a young female patient: a case report
Author(s) -
Shengyuan Song,
Ke Xu,
Chun Zhang
Publication year - 2021
Publication title -
international journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.634
H-Index - 29
eISSN - 2227-4898
pISSN - 2222-3959
DOI - 10.18240/ijo.2021.11.22
Subject(s) - medicine , compound heterozygosity , atrophy , heterozygote advantage , ophthalmology , mutation , genetics , pathology , pediatrics , bioinformatics , allele , gene , biology