CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.
Hepatology
; 66(1): 286-288, 2017 07.
Article
en En
| MEDLINE
| ID: mdl-28073151
ABSTRACT
A 52-year old patient presented with lymphedema, protein loosing enteropathy, and sclerosing cholangitis and was diagnosed with lymphedema cholestasis syndrome (LCS). Cholangioscopy revealed dilated lymphatic vessels obstructing the bile duct and compound heterozygosity for collagen and calcium-binding epidermal growth factor domain-containing protein 1 (CCBE1) mutations was identified defining a novel type of LCS. (Hepatology 2017;66286-288).
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Proteínas de Unión al Calcio
/
Colangitis Esclerosante
/
Colestasis
/
Predisposición Genética a la Enfermedad
/
Proteínas Supresoras de Tumor
/
Linfedema
Tipo de estudio:
Prognostic_studies
Límite:
Humans
/
Middle aged
Idioma:
En
Revista:
Hepatology
Año:
2017
Tipo del documento:
Article
País de afiliación:
Austria