Erratum to: Berardinelli Seip congenital lipodystrophy presenting with neonatal diabetes mellitus due to a mutation in the AGPAT2 gene
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چکیده
منابع مشابه
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Recently, two missense mutations (N88S, S90L) in the Berardinelli-Seip congenital lipodystrophy gene have been identified in autosomal dominant distal hereditary motor neuropathy and Silver syndrome. We report the phenotypic consequences of the N88S mutation in 90 patients of 1 large Austrian family and two unrelated German families. Variation in the clinical and electrophysiological phenotype ...
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Congenital generalized lipodystrophies (CGLs) are very rare autosomal recessive disorders which have four types. Of the four CGL types, BSCL2 (Berardinelli–Seip Congenital lipodystrophy type 2) is the result of mutations in the BSCL2/seipin gene. BSCL2 that is the most severe lipodystrophic phenotype is characterized by generalized lipodystrophy, overgrowth, acanthosis nigricans, hepatomegaly, ...
متن کاملA Rare case in Indians -- Berardinelli–Seip Congenital Lipodystrophy
Berardinelli–Seip Congenital Lipodystrophy( BSCL) also called Congenital Generalised Lipodystrophy (CGL) is a very rare autosomal recessive metabolic syndrome with a prevalence of less than1 case in 12 million. About 200 cases have been reported so far world-wide. BSCL2 ,the more severe form of the disease with onset in the neonatal period or early infancy is present in Lebanon, Portugal, Norwa...
متن کاملberardinelli-seip congenital lipodystrophy: report of an iranian girl with a novel mutation of bscl2 gene
congenital generalized lipodystrophies (cgls) are very rare autosomal recessive disorders which have four types.of the four cgl types, bscl2 (berardinelli–seip congenital lipodystrophy type 2) is the result of mutations in the bscl2/seipingene.bscl2 which is the most severe lipodystrophic phenotype is characterized by generalized lipodystrophy, overgrowth,acanthosisnigricans, hepatomegaly, insu...
متن کاملGenotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American families. More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be...
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ژورنال
عنوان ژورنال: International Journal of Diabetes in Developing Countries
سال: 2013
ISSN: 0973-3930,1998-3832
DOI: 10.1007/s13410-013-0124-4