Case Reports
doi: 10.1055/s-0030-1248282.
Epub 2010 Mar 18.
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL)
Affiliations
- PMID: 20301053
- DOI: 10.1055/s-0030-1248282
Item in Clipboard
Case Reports
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL)
Klin Padiatr.
2010 Sep.
Abstract
Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare autosomal recessive disease. In the described patient diagnostic relevant symptoms developed at 3 week age.
Georg Thieme Verlag KG Stuttgart, New York.
Similar articles
-
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.Pediatr Int. 2009 Dec;51(6):775-9. doi: 10.1111/j.1442-200X.2009.02863.x. Epub 2009 Mar 31. Pediatr Int. 2009. PMID: 19438831
-
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).Clin Chim Acta. 2009 Apr;402(1-2):1-6. doi: 10.1016/j.cca.2008.12.032. Epub 2009 Jan 9. Clin Chim Acta. 2009. PMID: 19167372 Review.
-
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.Eur J Med Genet. 2009 Jan-Feb;52(1):14-6. doi: 10.1016/j.ejmg.2008.10.006. Epub 2008 Nov 12. Eur J Med Genet. 2009. PMID: 19041432
-
A case of Berardinelli-Seip syndrome presenting with cirrhosis.J R Coll Physicians Edinb. 2013;43(4):309-11. doi: 10.4997/JRCPE.2013.406. J R Coll Physicians Edinb. 2013. PMID: 24350312
-
Berardinelli-Seip Congenital Lipodystrophy - A Case Report and Review of Literature.J Coll Physicians Surg Pak. 2022 Jun;32(6):817-819. doi: 10.29271/jcpsp.2022.06.817. J Coll Physicians Surg Pak. 2022. PMID: 35686420 Review.
Cited by
-
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.Orphanet J Rare Dis. 2024 Mar 13;19(1):118. doi: 10.1186/s13023-024-03084-2. Orphanet J Rare Dis. 2024. PMID: 38481246 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
