Cargando…
A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1
Autores principales: | Higuchi, Shinji, Takagi, Masaki, Shimomura, Satoshi, Nishimura, Gen, Hasegawa, Yukihiro |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965511/ https://www.ncbi.nlm.nih.gov/pubmed/27507912 http://dx.doi.org/10.1297/cpe.25.107 |
Ejemplares similares
-
Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the
p.T555P mutation in the COL10A1 gene
por: Hasegawa, Kosei, et al.
Publicado: (2015) -
A Japanese familial case of hypochondroplasia with a novel mutation in
FGFR3
por: Nagahara, Keiko, et al.
Publicado: (2016) -
Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
por: Khorasani, Efat, et al.
Publicado: (2016) -
Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis
por: de França, Marina, et al.
Publicado: (2020) -
Characterization of a novel COL10A1 variant associated with Schmid‐type metaphyseal chondrodysplasia and a literature review
por: Wu, Huixiao, et al.
Publicado: (2021)