A Taiwanese Boy With Congenital Generalized Lipodystrophy Caused by Homozygous Ile262fs Mutation in the BSCL2 Gene
Author:
Publisher
Wiley
Subject
General Medicine
Reference21 articles.
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2. Generalized lipodystrophy, congenital and acquired (lipoatrophy);Seip;Acta Paediatr Suppl,1996
3. Radiological features in generalized lipodystrophy;Westvik;Acta Paediatr Suppl,1996
4. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34;Garg;J Clin Endocrinol Metab,1999
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1. A murine model of BSCL2-associated Celia's encephalopathy;Neurobiology of Disease;2023-10
2. Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review;Journal of Pediatric Endocrinology and Metabolism;2022-11-28
3. RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients;Scientific Data;2021-10-13
4. Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding;Journal of Clinical Medicine;2021-04-01
5. Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction;Orphanet Journal of Rare Diseases;2020-04-29
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