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Mots-clés associés à l'article
Diseases
Alagille disease
fibroepithelial polyp
congenital polycythemia
Fanconi disease
Genetic diseases
Alagille disease
monosomy X
congenital generalized osteosclerosis with bilateral polymicrogyria
hypertrophy of the retinal pigment epithelium
Metabolic pathway
Zellweger disease
mucolipidosis type IIIa
Smith-Lemli-Opitz syndrome
anomalies of plasmalogens biosynthesis
Pediatric pathology
Byler disease
progressive familial intrahepatic cholestasis type 2
benign recurrent intrahepatic cholestasis
progressive familial intrahepatic cholestasis type 3
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Byler disease
PFIC-1
Etiology:
Mutation in the
P-type adenosine triphosphatase
(18q21-22)
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