Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita

Abstract 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...

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Bibliographic Details
Main Authors: Moe Akahira-Azuma, Yumi Enomoto, Naoyuki Nakamura, Takayuki Yokoi, Mari Minatogawa, Noriaki Harada, Yoshinori Tsurusaki, Kenji Kurosawa
Format: Article
Language:English
Published: Nature Publishing Group 2022-05-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-022-00193-x

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https://doi.org/10.1038/s41439-022-00193-x

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