Open AccessFirst Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers
Author(s) -
Stefan Bittmann,
Elisabeth Luchter,
Gloria Villalon,
Elena Moschüring-Alieva,
Lara Bittmann,
Anne Weissenstein
Publication year - 2022
Publication title -
journal of clinical medicine research
Language(s) - English
Resource type - Journals
eISSN - 1918-3011
pISSN - 1918-3003
DOI - 10.14740/jocmr4709
Subject(s) - medicine , genetics , mutation , compound heterozygosity , pediatrics , gene , biology