Article
Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant.
Sultan Qaboos University medical journal - 1 Nov 2023
Al Housni Samira, Al-Thihli Khalid, Rahmatalla Dafalla, Wali Yasser, Al Rawahi Yusriya
Abstract excerpt
Progressive familial intrahepatic cholestasis type 4 (PFIC4) is a relatively newly described autosomal recessive disorder caused by biallelic mutations in the gene encoding tight junction protein 2 (TJP2) which is located in chromosome 9q21. PFIC4 is characterised by cholestasis with or without other extrahepatic manifestations. Bleeding tendency due to vitamin k deficiency is a well-known complication of...
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