Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome

An 11-year-old Korean boy presented with short stature, hip dysplasia, radial head dislocation, carpal coalition, genu valgum, and fixed patellar dislocation and was clinically diagnosed with Steel syndrome. Scrutinizing the trio whole-exome sequencing data revealed novel compound heterozygous mutat...

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Detalles Bibliográficos
Autores principales: Kim, Jong Seop, Jeon, Hyoungseok, Lee, Hyeran, Ko, Jung Min, Kim, Yonghwan, Choi, Murim, Nishimura, Gen, Kim, Ok-Hwa, Cho, Tae-Joon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105406/
https://www.ncbi.nlm.nih.gov/pubmed/33963180
http://dx.doi.org/10.1038/s41439-021-00149-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105406/
https://www.ncbi.nlm.nih.gov/pubmed/33963180
http://dx.doi.org/10.1038/s41439-021-00149-7

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