Work

Low Phospholipid‐Associated Cholelithiasis in a Mother–Son Pair Associated With a Novel ABCB4 Frameshift Variant

Year: 2026

Type: article

Abstract: 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.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.73591

Authors: Hui‐Ming Yang, Jun Liu, Zheng Zhang

Institution: Hunan Provincial People's Hospital

Language: English

Topic: Drug Transport and Resistance Mechanisms

Subfield: Oncology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820