Author:
Horoz Ozden O.,Mungan Neslihan O.,Yildizdas Dincer,Hergüner Özlem,Ceylaner Serdar,Kör Deniz,Waterham Hans,Coskun Turgay
Abstract
AbstractBrown-Vialetto-Van Laere syndrome (BVVLS) is a rare and severe neurometabolic disease. We present two siblings with BVVLS with a novel homozygous mutation in
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
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