A Novel Variant (p.Leu1054Arg) in ABCB11 Presenting with Progressive Familial Intrahepatic Cholestasis (PFIC) with Congenital Hypothyroidism
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s12098-024-05271-2.pdf
Reference4 articles.
1. Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ. Systematic review of progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2019;43:20–36.
2. Pfister ED, Dröge C, Liebe R, et al. Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: presentation of a case series and literature review. Liver Int. 2022;42:1084–96.
3. Agarwal S, Lal BB, Rawat D, Rastogi A, Bharathy KG, Alam S. Progressive familial intrahepatic cholestasis (PFIC) in Indian children: clinical spectrum and outcome. J Clin Exp Hepatol. 2016;6:203–8.
4. Li L, Deheragoda M, Lu Y, Gong J, Wang J. Hypothyroidism associated with ATP8B1 deficiency. J Pediatr. 2015;167:1334–9.e1.
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