A congenital generalized lipodystrophy patient complicated with critical central neurological involvement due to BSCL2 mutations

Objective To retrospectively analyze the clinical data of a patient with congenital generalized lipodystrophy (CGL) type 2 caused by BSCL2 mutation. Methods The clinical data of a patient with CGL was analyzed, including clinical features, laboratory data. The next generation sequencing was...

Ausführliche Beschreibung

Bibliografische Detailangaben

1. Verfasser:	DING Juan,MA Ming-sheng,QIU Zheng-qing
Format:	Artigo
Sprache:	Chinês
Veröffentlicht:	Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College. 2021-09-01
Schriftenreihe:	Jichu yixue yu linchuang
Schlagworte:	congenital generalized lipodystrophy|caused by bscl2|sepin|epilepsy
Online-Zugang:	http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/a201432.pdf
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