Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort

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 heter...

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Veröffentlicht in:	Gastroenterología y hepatología 2022-10, Vol.45 (8), p.585-592
Hauptverfasser:	Mínguez Rodríguez, Beatriz, Molera Busoms, Cristina, Martorell Sampol, Loreto, García Romero, Ruth, Colomé Rivero, Gemma, Martín de Carpi, Javier
Format:	Artikel
Sprache:	eng
Schlagworte:	ABCB11 ABCB4 ATP8B1 BSEP Colestasis intrahepática progresiva familiar FIC1 MDR3 Progressive Familial Intrahepatic Cholestasis
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