SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome

Allan–Herndon–Dudley syndrome (AHDS) is a neurodevelopmental disorder that manifests as intellectual disability and motor developmental delay. Thyroid hormone transporter dysfunction due to SLC16A2 mutation is the underlying cause of this disorder. We identified a novel (P537del) and a recurrent (A1...

Descripción completa

Detalles Bibliográficos
Autores principales: Yamamoto, Toshiyuki, Shimojima, Keiko, Umemura, Ayako, Uematsu, Mitsugu, Nakayama, Tojo, Inoue, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785542/
https://www.ncbi.nlm.nih.gov/pubmed/27081503
http://dx.doi.org/10.1038/hgv.2014.10

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785542/
https://www.ncbi.nlm.nih.gov/pubmed/27081503
http://dx.doi.org/10.1038/hgv.2014.10

Ejemplares similares