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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Detalles Bibliográficos
Autores principales: Metwalley, Kotb Abbass, Farghaly, Hekma Saad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065484/
https://www.ncbi.nlm.nih.gov/pubmed/24959019
http://dx.doi.org/10.4103/0971-6866.132762

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065484/
https://www.ncbi.nlm.nih.gov/pubmed/24959019
http://dx.doi.org/10.4103/0971-6866.132762

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