Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-018-35152-6.pdf
Reference39 articles.
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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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