Carnitine deficiency, hearing loss and hydrochlorothiazide-induced diabetes mellitus associated with the recurrent p.Trp85Arg variant in HNF4A

Am J Med Genet A. 2022 Oct;188(10):3139-3141. doi: 10.1002/ajmg.a.62927. Epub 2022 Jul 31.

Andre Mattman^{1

2}, Raha Masoudi², Sylvia Stockler-Ipsiroglu^{3

4}, Irena Zivkovic⁵, Anna Lehman^{2

4

6}, Janis M Dionne^{4

7}

¹ Department of Pathology and Laboratory Medicine, St. Paul's Hospital, Vancouver, British Columbia, Canada.
² Adult Metabolic Disease Clinic, Vancouver General Hospital, Vancouver, British Columbia, Canada.
³ Division of Biochemical Genetics, BC Children's Hospital, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
⁴ BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
⁵ University of British Columbia School of Medicine, Vancouver, British Columbia, Canada.
⁶ Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
⁷ Division of Nephrology, BC Children's Hospital, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.

No abstract available

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