VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation

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 VA...

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Vydáno v:Cold Spring Harb Mol Case Stud
Hlavní autoři: Lyon, Gholson J., Marchi, Elaine, Ekstein, Joseph, Meiner, Vardiella, Hirsch, Yoel, Scher, Sholem, Yang, Edward, De Vivo, Darryl C., Madrid, Ricardo, Li, Quan, Wang, Kai, Haworth, Andrea, Chilton, Ilana, Chung, Wendy K., Velinov, Milen
Médium: Artigo
Jazyk:Inglês
Vydáno: Cold Spring Harbor Laboratory Press 2019
Témata:
Rapid Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6913149/
https://ncbi.nlm.nih.gov/pubmed/31387860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003715
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