A novel CUL7 mutation in a Japanese patient with 3M syndrome

3M syndrome is an autosomal recessive disease characterized by severe pre-natal and post-natal growth retardation, dysmorphic facial features, and skeletal abnormalities. We present a patient with 3M syndrome caused by the compound heterozygous mutations p.Trp68* and p.Gly1452Asp in CUL7, the latter...

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Detalles Bibliográficos
Autores principales: Takatani, Tomozumi, Shiohama, Tadashi, Takatani, Rieko, Shimojo, Naoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199316/
https://www.ncbi.nlm.nih.gov/pubmed/30374406
http://dx.doi.org/10.1038/s41439-018-0029-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199316/
https://www.ncbi.nlm.nih.gov/pubmed/30374406
http://dx.doi.org/10.1038/s41439-018-0029-3

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