Senior-Løken syndrome with IQCB1 mutation in Taiwan

Kaohsiung J Med Sci. 2018 Oct;34(10):588-589. doi: 10.1016/j.kjms.2018.03.010. Epub 2018 Apr 19.

Authors

Pei-Hua Yu¹, Yuh-Ren Kuo¹, Janine Altmüller², Daw-Yang Hwang³

Affiliations

¹ Division of Nephrology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Taiwan.
² Cologne Center for Genomics, Center for Molecular Medicine Cologne and Institute of Human Genetics, University of Cologne, Germany.
³ Division of Nephrology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Taiwan. Electronic address: 910208@kmuh.org.tw.

PMID: 30309488
DOI: 10.1016/j.kjms.2018.03.010

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Base Sequence
Calmodulin-Binding Proteins / genetics*
Ciliopathies / diagnostic imaging
Ciliopathies / genetics*
Female
Humans
Kidney / diagnostic imaging
Kidney Diseases, Cystic / diagnostic imaging
Kidney Diseases, Cystic / genetics*
Leber Congenital Amaurosis / diagnostic imaging
Leber Congenital Amaurosis / genetics*
Mutation / genetics*
Optic Atrophies, Hereditary / diagnostic imaging
Optic Atrophies, Hereditary / genetics*
Taiwan
Young Adult

Substances

Calmodulin-Binding Proteins
IQCB1 protein, human

Supplementary concepts

Senior Loken Syndrome