Barraquer-Simons syndrome: A rare clinical entity
Author:
Affiliation:
1. Pediatric Genetic Unit, Department of Pediatrics; Hacettepe University; Ankara Turkey
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36491/fullpdf
Reference31 articles.
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3. A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis;Faguer;Eur J Med Genet,2011
4. Genome-wide analysis of mouse transcripts using exon microarrays and factor graphs;Frey;Nat Genet,2005
5. A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene;Gao;J Pediatr Endocrinol Metab,2012
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1. PARRY ROMBERG SYNDROME- A CASE REPORT;Journal of Evolution of Medical and Dental Sciences;2019-05-20
2. Acquired Partial Lipodystrophy (Barraquer-Simons Syndrome): Early Cosmetic Intervention with Autologous Fat;Annals of Dermatology;2018
3. Barraquer-Simons syndrome: a unique patient's perspective on diagnosis, disease progression and recontouring treatment;BMJ Case Reports;2016-07-11
4. Familial accumulation of sudden cardiac deaths and the LMNA variant c.868G>A (p.Glu290Lys);International Journal of Cardiology;2016-07
5. Progressive hemifacial atrophy: a review;Orphanet Journal of Rare Diseases;2015-04-01
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