Cargando…
A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome
Autores principales: | Huynh, Tony, Mcgown, Ivan, Nyunt, Ohn, Cowley, David, Harris, Mark, Cotterill, Andrew M, Leong, Gary M |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2009
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004906/ https://www.ncbi.nlm.nih.gov/pubmed/24790383 http://dx.doi.org/10.1297/cpe.18.73 |
Ejemplares similares
-
A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The
AAAS Gene
por: Ikemoto, Satoru, et al.
Publicado: (2012) -
Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due
to a novel GNAS mutation
por: Kagami, Ryosuke, et al.
Publicado: (2020) -
Reply to comments on: “Obesity associated with a novel mitochondrial tRNA(Cys) 5802A>G mutation in a Chinese family”
por: Wang, Jinling, et al.
Publicado: (2020) -
Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome
por: Deng, Sheng, et al.
Publicado: (2020) -
Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
por: Yuan, Zhuang-Zhuang, et al.
Publicado: (2020)