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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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Autors principals: Metwalley, Kotb Abbass, Farghaly, Hekma Saad
Format: Artigo
Idioma:Inglês
Publicat: Medknow Publications & Media Pvt Ltd 2014
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Accés en línia: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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