A novel mutation of NKX2-1 affecting 2 generations with hypothyroidism and choreoathetosis: Part of the spectrum of brain-thyroid-lung syndrome

Journal of Child Neurology

Volumn 29, Issue 5, 2014, Pages 666-669

  Williamson, Scott ^a   Kirkpatrick, Martin ^b   Greene, Stephen ^c   Goudie, David ^d  

^a CROSSHOUSE HOSPITAL   (United Kingdom)

^b NHS TAYSIDE   (United Kingdom)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d NINEWELLS HOSPITAL   (United Kingdom)

Author keywords

benign hereditary chorea; brain thyroid lung syndrome; hypothyroidism; NKX2 1; TTF 1

Indexed keywords

THYROID TRANSCRIPTION FACTOR 1; THYROTROPIN; THYROXINE; NUCLEAR PROTEIN; THYROID NUCLEAR FACTOR 1; TRANSCRIPTION FACTOR;

ADULT; ARTICLE; ATAXIA; BRAIN DISEASE; BRAIN THYROID LUNG SYNDROME; CASE REPORT; CHOREA; CHOREOATHETOSIS; CLINICAL FEATURE; CONGENITAL DEAFNESS; DEVELOPMENTAL DISORDER; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOTHYROIDISM; INTRON; LUNG DISEASE; MALE; MEDICAL HISTORY; MISSENSE MUTATION; MOTOR DEVELOPMENT; MOTOR DYSFUNCTION; ONSET AGE; PENDRED SYNDROME; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; SON; THYROID DISEASE; THYROTROPIN BLOOD LEVEL; TREMOR; UNSTEADINESS; YOUNG ADULT; ATHETOSIS; CONGENITAL HYPOTHYROIDISM; FAMILY HEALTH; GENETICS; NEONATAL RESPIRATORY DISTRESS SYNDROME;

ATHETOSIS; CHOREA; CONGENITAL HYPOTHYROIDISM; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; NUCLEAR PROTEINS; RESPIRATORY DISTRESS SYNDROME, NEWBORN; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84899703220     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073813518243     Document Type: Article

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