Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 12, 2012, Pages 3168-3173

  Barnett, Christopher P ^a   Mencel, Justin J ^a   Gecz, Jozef ^a,b   Waters, Wendy ^a   Kirwin, Susan M ^c   Vinette, Kathy M B ^c   Uppill, Miriam ^a   Nicholl, Jillian ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

Author keywords

Array CGH; Ataxia; Choreoathetosis; Congenital hypothyroidism; Neonatal respiratory distress syndrome; NKX2 1; NPAS3; RALGAPA1; Surfactant associated 3 (SFTA3) gene

Indexed keywords

THYROTROPIN; TRANSCRIPTION FACTOR;

AGE; ARTICLE; BRAIN DEVELOPMENT; CASE REPORT; CENTROMERE; CHILD; CHOREOATHETOSIS; CHROMOSOME 14Q; CHROMOSOME DELETION; CHROMOSOME DELETION 14Q13; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; DEVELOPMENTAL DISORDER; EXON; FEMALE; GENE; GENE FUNCTION; GENE MUTATION; HUMAN; HYPERKINESIA; INFANT; LUNG DEVELOPMENT; MICROARRAY ANALYSIS; NEONATAL RESPIRATORY DISTRESS SYNDROME; NK2 HOMEOBOX 1 GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY TRACT INFECTION; SFTA3 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID GLAND; THYROTROPIN BLOOD LEVEL;

EID: 84870255304     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35456     Document Type: Article

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