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Berardinelli-Seip syndrome type 1 in an Egyptian child

Berardinelli-Seip syndrome type 1 or Berardinelli-Seip congenital lipodystrophy 1 (BSCL1) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. Its prevalence in Egypt is not known. Here, we report case of a 12-year-old Egyptian b...

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Detalhes bibliográficos
Main Authors: Metwalley, Kotb Abbass, Farghaly, Hekma Saad
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4065484/
https://ncbi.nlm.nih.gov/pubmed/24959019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-6866.132762
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