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...

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Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Yamamoto, Toshiyuki, Shimojima, Keiko, Umemura, Ayako, Uematsu, Mitsugu, Nakayama, Tojo, Inoue, Ken
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2014
Fag:
Data Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785542/
https://ncbi.nlm.nih.gov/pubmed/27081503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.10
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