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

A Video Report of Brain–Lung–Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the 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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Bibliographic Details
Main Authors: Takenori Tozawa MD, PhD, Kenji Yokochi MD, PhD, Satoshi Kono MD, PhD, Takashi Konishi MD, PhD, Toshiyuki Yamamoto MD, PhD, Akira Nishimura MD, PhD, Tomohiro Chiyonobu MD, PhD, Masafumi Morimoto MD, PhD, Hajime Hosoi MD, PhD
Format: Article
Language:English
Published: SAGE Publishing 2016-08-01
Series:Child Neurology Open
Online Access:https://doi.org/10.1177/2329048X16665012

Internet

https://doi.org/10.1177/2329048X16665012

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