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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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Genome Var
Auteurs principaux: Watanabe, Miki, Nakagawa, Ryuji, Kohmoto, Tomohiro, Naruto, Takuya, Suga, Ken-ichi, Goji, Aya, Horikawa, Hideaki, Masuda, Kiyoshi, Kagami, Shoji, Imoto, Issei
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
Sujets:
Data Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5103007/
https://ncbi.nlm.nih.gov/pubmed/27867521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.37
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