Berardinelli-Seip syndrome type 1 in an Egyptian child.
Indian J Hum Genet
;
2014 Jan-Mar ;20 (1): 75-78
Article
in English
| IMSEAR
| ID: sea-156638
ABSTRACT
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 boy with the clinical, metabolic and molecular genetics manifestations of BSCL1 including overt diabetes mellitus.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Abnormalities, Multiple
/
Acromegaly
/
Humans
/
Hypertriglyceridemia
/
Child
/
Diabetes Mellitus
/
Egypt
Country/Region as subject:
Africa
Language:
English
Journal:
Indian J Hum Genet
Year:
2014
Type:
Article
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