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Published on: September 15, 2018
Low Phospholipid-Associated Cholelithiasis in a Mother-Son Pair Associated With a Novel ABCB4 Frameshift Variant
Hui-Ming Yang1,2, Jun Liu1, Zheng Zhang1
1Department of Hepatology Hunan Provincial People's Hospital and the First Affiliated Hospital of Hunan Normal University Changsha Hunan China.
Abstract:
Low phospholipid-associated cholelithiasis (LPAC) syndrome is a rare inherited disorder caused by ABCB4 mutations with heterogeneous manifestations. We describe two LPAC cases in a mother-son pair, detailing their clinical presentations, diagnostic evaluations, and management. A novel ABCB4 frameshift variant (c.715_716insTT; p.Ser239PhefsTer9) was identified, expanding the genetic spectrum of LPAC syndrome.
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