Associated Papers
Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review.
Wang Y et al.
Frontiers in Genetics, 2025
Type 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation.
Wang M et al.
European Journal of Clinical Nutrition, 2022
Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Sánchez-Iglesias S et al.
Journal of Clinical Medicine, 2021
Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.
Liu Y et al.
European Journal of Medical Genetics, 2019
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Sánchez-Iglesias S et al.
Neurogenetics, 2019
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
Opri R et al.
Seizure, 2016
Lack of testicular seipin causes teratozoospermia syndrome in men.
Jiang M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
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