A novel BBS10 mutation identified in a patient with Bardet–Biedl syndrome with a violent emotional outbreak

We report a 10-year-old girl with Bardet–Biedl syndrome caused by a novel mutation in the Bardet–Biedl syndrome 10 (BBS10) gene. She had multiple malformations, including a dysmorphic face, postaxial polydactyly, polycystic kidney and amblyopia. She presented with typical BBS features, including int...

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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Ohto, Tatsuyuki, Enokizono, Takashi, Tanaka, Ryuta, Tanaka, Mai, Suzuki, Hisato, Sakai, Aiko, Imagawa, Kazuo, Fukushima, Hiroko, Fukushima, Takashi, Sumazaki, Ryo, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
Matèries:
Data Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5550758/
https://ncbi.nlm.nih.gov/pubmed/28808579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.33
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