MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene

MCT8 deficiency is an X-linked recessive disorder. We report the case of a 2-year-old Japanese boy with MCT8 deficiency caused by a novel frameshift variant, NM_006517.5(SLC16A2_v001):c.966dup [p.(Ile323Hisfs*57)]. He presented no head control and spoke no meaningful words, indicating severe develop...

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Detalles Bibliográficos
Autores principales: Wakabayashi, Kei, Osaka, Hitoshi, Kojima, Karin, Imaizumi, Taichi, Yamamoto, Toshiyuki, Yamagata, Takanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7886859/
https://www.ncbi.nlm.nih.gov/pubmed/33594047
http://dx.doi.org/10.1038/s41439-021-00142-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7886859/
https://www.ncbi.nlm.nih.gov/pubmed/33594047
http://dx.doi.org/10.1038/s41439-021-00142-0

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