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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Bibliografski detalji
Izdano u:Cold Spring Harb Mol Case Stud
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2019
Teme:
Rapid Communication
Online pristup: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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