A Novel Variant (p.Leu1054Arg) in ABCB11 Presenting with Progressive Familial Intrahepatic Cholestasis (PFIC) with Congenital Hypothyroidism.

Autor: Agarwal S; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India., Rajvanshi N; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India., Goyal JP; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India., Kumar P; Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, 342005, India. drprawin484@gmail.com.
Jazyk: angličtina
Zdroj: Indian journal of pediatrics [Indian J Pediatr] 2024 Nov; Vol. 91 (11), pp. 1194. Date of Electronic Publication: 2024 Sep 14.
DOI: 10.1007/s12098-024-05271-2
Databáze: MEDLINE
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