A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome

Allan-Herndon-Dudley Syndrome (AHDS), an X linked condition, is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays, in combination with altered thyroid hormone levels, in particular, high serum T3 levels. Recently, this disease was proved to be caused...

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Detalhes bibliográficos
Main Authors: Yamamoto, Sayaka, Okuhara, Koji, Tonoki, Hidefumi, Iizuka, Susumu, Nihei, Noriko, Tajima, Toshihiro
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society for Pediatric Endocrinology 2013
Assuntos:
Mutation-in-Brief
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3809735/
https://ncbi.nlm.nih.gov/pubmed/24170966
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.22.83
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