A Video Report of Brain–Lung–Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene

Benign hereditary chorea is a rare autosomal-dominant disorder that is characterized by childhood-onset nonprogressive chorea and normal cognitive function. Defects in NKX2-1 on chromosome 14q13, which encodes thyroid transcription factor 1, produce a concurrent clinical manifestation of chorea, res...

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Detalles Bibliográficos
Autores principales: Tozawa, Takenori, Yokochi, Kenji, Kono, Satoshi, Konishi, Takashi, Yamamoto, Toshiyuki, Nishimura, Akira, Chiyonobu, Tomohiro, Morimoto, Masafumi, Hosoi, Hajime
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2016
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417288/
https://www.ncbi.nlm.nih.gov/pubmed/28503612
http://dx.doi.org/10.1177/2329048X16665012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417288/
https://www.ncbi.nlm.nih.gov/pubmed/28503612
http://dx.doi.org/10.1177/2329048X16665012

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