Whole exome sequencing reveals a BSCL2 mutation causing progressive encephalopathy with lipodystrophy [PELD] in an Iranian pediatric patient
IBJ-Iranian Biomedical Journal. 2016; 20 (5): 295-301
en Inglés
| IMEMR
| ID: emr-183314
ABSTRACT
Background:
Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhoodonset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing
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Índice:
IMEMR (Mediterraneo Oriental)
Idioma:
Inglés
Revista:
Iran. Biomed. J.
Año:
2016
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