Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

Journal of Clinical Investigation

Volumn 109, Issue 4, 2002, Pages 475-480

  Krude, Heiko ^a   Schütz, Barbara ^a   Biebermann, Heike ^a   Von Moers, Arpad ^a   Schnabel, Dirk ^a   Neitzel, Heidi ^b   Tönnies, Holger ^b   Weise, Dagmar ^c   Lafferty, Antony ^d   Schwarz, Siegfried ^e   Defelice, Mario ^f   Von Deimling, Andreas ^g   Van Landeghem, Frank ^g   Dilauro, Roberto ^f   Grüters, Annette ^a,h  

^a Department of Pediatric Endocrinology ^*  (Germany)

^b Otto Heubner Center for Pediatric and Adolescent Medicine (OHC)   (Germany)

^c Altonaer Kinderkrankenhaus   (Germany)

^d MONASH UNIVERSITY   (Australia)

^e UNIVERSITY OF INNSBRUCK   (Austria)

^f STAZIONE ZOOLOGICA ANTON DOHRN   (Italy)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h HUMBOLDT UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

THYROID HORMONE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NKX2 1; UNCLASSIFIED DRUG;

ADOLESCENT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BASAL GANGLION; BRAIN DEVELOPMENT; CHILD; CHOREOATHETOSIS; CHROMOSOME 14Q; CLINICAL ARTICLE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA BINDING; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC MODEL; HETEROZYGOSITY LOSS; HUMAN; HYPOTHYROIDISM; LUNG DISEASE; MISSENSE MUTATION; MOUSE; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NONHUMAN; NONSENSE MUTATION; OUTCOMES RESEARCH; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESPIRATORY DISTRESS; STOP CODON;

EID: 0036181474     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI0214341     Document Type: Article

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