Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome-Reference-Cited by-同舟云学术

Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome

Published:2018-11-13 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Katagiri Satoshi^ORCID,Hayashi Takaaki,Yoshitake Kazutoshi,Murai Noriyuki,Matsui Zenichi,Kubo Hiroyuki,Satoh Hiroyuki,Matsufuji Senya,Takamura Tsuyoshi,Yokoo Takashi,Omori Yoshihiro,Furukawa Takahisa,Iwata Takeshi^ORCID,Nakano Tadashi

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-35152-6.pdf

Reference39 articles.

1. Ronquillo, C. C., Bernstein, P. S. & Baehr, W. Senior-Loken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. Vision Res 75, 88–97 (2012).

2. Senior, B., Friedmann, A. I. & Braudo, J. L. Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. Am J Ophthalmol 52, 625–633 (1961).

3. Loken, A. C., Hanssen, O., Halvorsen, S. & Jolster, N. J. Hereditary renal dysplasia and blindness. Acta Paediatr 50, 177–184 (1961).

4. Godel, V., Iaina, A., Nemet, P. & Lazar, M. Retinal manifestations in familial juvenile nephronophthisis. Clin Genet 16, 277–281 (1979).

5. Wolf, M. T. & Hildebrandt, F. Nephronophthisis. Pediatr Nephrol 26, 181–194 (2011).

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