A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta

Detalles Bibliográficos
Autores principales: Yamada, Chieko, Kubota, Takuo, Ishimi, Takeshi, Takeyari, Shinji, Yamamoto, Kenichi, Nakayama, Hirofumi, Ohata, Yasuhisa, Fujiwara, Makoto, Kitaoka, Taichi, Ozono, Keiichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2022
Materias:
Mutation-in-Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297176/
https://www.ncbi.nlm.nih.gov/pubmed/35928384
http://dx.doi.org/10.1297/cpe.2022-0027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297176/
https://www.ncbi.nlm.nih.gov/pubmed/35928384
http://dx.doi.org/10.1297/cpe.2022-0027

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