NKX2-1 mutations in brain-lung-thyroid syndrome: A case series of four patients

Journal of Pediatric Endocrinology and Metabolism

Volumn 27, Issue 3-4, 2014, Pages 373-378

  Shetty, Vinutha B ^a,b   Kiraly Borri, Cathy ^a   Lamont, Phillipa ^a   Bikker, Hennie ^c   Choong, Catherine S Y ^a,b  

^a PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

benign hereditary chorea; brain lung thyroid syndrome; congenital hypothyroidism; NKX2 1 mutation; respiratory distress syndrome

Indexed keywords

THYROID TRANSCRIPTION FACTOR 1; THYROXINE;

ARTICLE; BRAIN LUNG THYROID SYNDROME; CASE REPORT; CHILD; CONGENITAL HYPOTHYROIDISM; FEMALE; GENE MUTATION; GENETIC COUNSELING; HUMAN; HUNTINGTON CHOREA; HYPOTHYROIDISM; MALE; NEUROLOGIC DISEASE; PRESCHOOL CHILD; RESPIRATORY DISTRESS; RESPIRATORY DISTRESS SYNDROME; SCHOOL CHILD; THYROID FUNCTION TEST; ULTRASOUND;

ATHETOSIS; CHILD; CHILD, PRESCHOOL; CHOREA; CONGENITAL HYPOTHYROIDISM; HUMANS; INFANT; MALE; MUTATION; NUCLEAR PROTEINS; RESPIRATORY DISTRESS SYNDROME, NEWBORN; TRANSCRIPTION FACTORS;

EID: 84896777118     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2013-0109     Document Type: Article

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