Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient

BACKGROUND: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and...

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Detalhes bibliográficos
Publicado no:Iran Biomed J
Main Authors: Alaei, Mohammad Reza, Talebi, Saeed, Ghofrani, Mohammad, Taghizadeh, Mohsen, Keramatipour, Mohammad
Formato: Artigo
Idioma:Inglês
Publicado em: Pasteur Institute 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5075143/
https://ncbi.nlm.nih.gov/pubmed/27452399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.22045/ibj.2016.07
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