VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation
Volume: 5, Issue: 6, Pages: a003715 - a003715
Published: Aug 6, 2019
Abstract
Whole-exome sequencing was used to identify the genetic etiology of a rapidly progressing neurological disease present in two of six siblings with early childhood onset of severe progressive spastic paraparesis and learning disabilities. A homozygous mutation (c.2005G>T, p, V669L) was found in VAC14, and the clinical phenotype is consistent with the recently described VAC14-related striatonigral degeneration, childhood-onset syndrome (SNDC)...
Paper Details
Title
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation
Published Date
Aug 6, 2019
Volume
5
Issue
6
Pages
a003715 - a003715
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