Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection

Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the CUL4B gene. Here, we report a clinically undiagnosed 5-year-old male with severe intellect...

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Detalles Bibliográficos
Autores principales: Okamoto, Nobuhiko, Watanabe, Miki, Naruto, Takuya, Matsuda, Keiko, Kohmoto, Tomohiro, Saito, Masako, Masuda, Kiyoshi, Imoto, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243919/
https://www.ncbi.nlm.nih.gov/pubmed/28144446
http://dx.doi.org/10.1038/hgv.2016.45

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5243919/
https://www.ncbi.nlm.nih.gov/pubmed/28144446
http://dx.doi.org/10.1038/hgv.2016.45

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