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Mild prominence of the Sylvian fissure in a Bainbridge‐Ropers syndrome patient with a novel frameshift variant in ASXL3

A Japanese boy aged 7 years with Bainbridge‐Ropers syndrome (BRPS) had a prominent domed forehead without metric ridge, mild prominence of the Sylvian fissure with bitemporal hollowing, and a heterozygous de novo novel variant “p.P1010Lfs*14” in ASXL3 gene in addition to typical findings of BRPS....

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Detalles Bibliográficos
Autores principales:	Chinen, Yasutsugu, Nakamura, Sadao, Ganaha, Akira, Hayashi, Shin, Inazawa, Johji, Yanagi, Kumiko, Nakanishi, Koichi, Kaname, Tadashi, Naritomi, Kenji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799615/ https://www.ncbi.nlm.nih.gov/pubmed/29445472 http://dx.doi.org/10.1002/ccr3.1361

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