Exome-first approach identified a novel gloss deletion associated with Lowe syndrome

Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift OCRL mutations. We report a 6-month-old male clinically suspected to have LS, but without the Fanconi-type renal dysfunction. Using a targeted-exome sequenci...

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Detalles Bibliográficos
Autores principales: Watanabe, Miki, Nakagawa, Ryuji, Kohmoto, Tomohiro, Naruto, Takuya, Suga, Ken-ichi, Goji, Aya, Horikawa, Hideaki, Masuda, Kiyoshi, Kagami, Shoji, Imoto, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103007/
https://www.ncbi.nlm.nih.gov/pubmed/27867521
http://dx.doi.org/10.1038/hgv.2016.37

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