Clinical features of Senior–Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man-Reference-Cited by-同舟云学术

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Clinical features of Senior–Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man

Published:2020-06-30 Issue:1 Volume:17 Page:39-42
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Chiu Harold Henrison C.¹,Sucaldito Ma. Sergia Fatima P.¹,Maceda Ebner Bon G.²,Montemayor Jan Andre S.³,Tamondong-Lachica Diana R.¹

Affiliation:

1. Department of Medicine, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines

2. Division of Clinical Genetics, Department of Paediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines

3. Division of Nephrology, Department of Medicine, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2020/017/JGM017-01-07.pdf

Reference14 articles.

1. Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

2. Hereditary Renal Dysplasia and Blindness

3. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

4. Nephronophthisis: Disease Mechanisms of a Ciliopathy

5. Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness.

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