Cargando…
A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone
Autores principales: | Ito, Jumpei, Narumi, Satoshi, Nishizawa, Kazumichi, Kamimaki, Tsutomu, Hori, Naoaki, Hasegawa, Tomonobu |
---|---|
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/PMC4738189/ https://www.ncbi.nlm.nih.gov/pubmed/26865751 http://dx.doi.org/10.1297/cpe.25.19 |
Ejemplares similares
-
A novel missense variant of FGFR1 in a Japanese
girl with Kallmann syndrome and holoprosencephaly
por: Uchida, Noboru, et al.
Publicado: (2022) -
A Novel Mutation of Androgen Receptor Gene in Complete Androgen Insensitivity
Syndrome
por: Narumi, Satoshi, et al.
Publicado: (2007) -
A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel
mutation in COL10A1
por: Higuchi, Shinji, et al.
Publicado: (2016) -
A Japanese familial case of hypochondroplasia with a novel mutation in
FGFR3
por: Nagahara, Keiko, et al.
Publicado: (2016) -
A Japanese case of familial hypercholesterolemia with a novel mutation in the
LDLR gene
por: Nagahara, Keiko, et al.
Publicado: (2019)