Berardinelli-Seip congenital lipodystrophy.
Indian Pediatr
;
2006 May; 43(5): 440-5
Artículo
en Inglés
| IMSEAR
| ID: sea-8434
ABSTRACT
Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. On the basis of mutational and haplotype analysis, BSCL families have been classified into three types BSCL 1, BSCL2 and BSCLX. We report Berardinelli-Seip congenital lipodystrophy (BSCL2 type) in three subjects from two unrelated Indian families (family1 and family2). The mutation (c.IVS2 11 A GT G ) found in affected members of family1 is a newly identified mutation. We also report the association of renal anomaly with this new mutation.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Gemelos
/
Humanos
/
Masculino
/
Preescolar
/
Subunidades gamma de la Proteína de Unión al GTP
/
Diabetes Mellitus Lipoatrófica
/
Enfermedades en Gemelos
/
Lactante
/
Enfermedades Renales
/
Mutación
Tipo de estudio:
Estudio pronóstico
Idioma:
Inglés
Revista:
Indian Pediatr
Año:
2006
Tipo del documento:
Artículo
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