Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome

3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies. We report a Japanese patient with 3M syndrome caused by the biallelic novel variants c.1705_1708d...

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Detalles Bibliográficos
Autores principales: Takizaki, Nao, Tsurusaki, Yoshinori, Katsumata, Kaoru, Enomoto, Yumi, Murakami, Hiroaki, Muroya, Koji, Ishikawa, Hiroshi, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000808/
https://www.ncbi.nlm.nih.gov/pubmed/32047638
http://dx.doi.org/10.1038/s41439-020-0090-6

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