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

Senior Løken syndrome (SLS) is a heterogeneous disorder characterized by severe retinal degenerations and juvenile-onset nephronophthisis. Genetic variants in ten different genes have been reported as the causes of SLS. Clinical evaluation of a patient with SLS and her unaffected parents revealed th...

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Detalles Bibliográficos
Autores principales: Katagiri, Satoshi, Hayashi, Takaaki, Yoshitake, Kazutoshi, Murai, Noriyuki, Matsui, Zenichi, Kubo, Hiroyuki, Satoh, Hiroyuki, Matsufuji, Senya, Takamura, Tsuyoshi, Yokoo, Takashi, Omori, Yoshihiro, Furukawa, Takahisa, Iwata, Takeshi, Nakano, Tadashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233217/
https://www.ncbi.nlm.nih.gov/pubmed/30425282
http://dx.doi.org/10.1038/s41598-018-35152-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233217/
https://www.ncbi.nlm.nih.gov/pubmed/30425282
http://dx.doi.org/10.1038/s41598-018-35152-6

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