BSCL2 Gene Mutation Causing Progressive Encephalopathy with or without Lipodystrophy, A Case Report from Pakistan

Celia’s encephalopathy or Progressive encephalopathy with or without lipodystrophy (PELD) is a rare childhood neurodegenerative syndrome, that is autosomal recessive mendelian trait, It is Seipin protein associated encephalopathy and results in regression of developmental mile stones. We report a c...

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Egile Nagusiak:	Madiha Naz, Nusrat Hussain buzdar, Sobia Rubab, Waheed ur Rehman
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Health Research Institute (HRI), National Institute of Health (NIH) 2024-10-01
Saila:	Pakistan Journal of Medical Research
Gaiak:	Encephalopathy BSCL2 gene developmental regression lipodystrophy
Sarrera elektronikoa:	https://pjmr.org.pk/index.php/pjmr/article/view/366
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