Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita (SEDC) is a multisystemic skeletal disorder caused by pathogenic variants in COL2A1. Here, we report the genotype-phenotype correlations in five Japanese patients with SEDC based on their clinical and radiological findings. All five patients had novel missense...

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Detalles Bibliográficos
Autores principales: Akahira-Azuma, Moe, Enomoto, Yumi, Nakamura, Naoyuki, Yokoi, Takayuki, Minatogawa, Mari, Harada, Noriaki, Tsurusaki, Yoshinori, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9114327/
https://www.ncbi.nlm.nih.gov/pubmed/35581182
http://dx.doi.org/10.1038/s41439-022-00193-x

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