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2021 Dec 20

Gastroenterol Hepatol


Rodríguez B M, Busoms C M, Sampol L M, García Romero R, Rivero G C, Martín de Carpi J
Gastroenterol Hepatol. 2021 Dec 20.
PMID: 34942279.


Heterozygous defects in genes implicated in Progressive Familial Intrahepatic Cholestasis have been described in milder forms of cholestatic diseases. Our aim is to describe clinical, laboratory and imaging characteristics as well as treatment and outcome of a cohort of pediatric patients with heterozygous mutations in ATP8B1, ABCB11 or ABCB4.