Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 1, 2001, Pages 234-238

  Vilain, Catheline ^a   Rydlewski, Catherine ^b   Duprez, Laurence ^a   Heinrichs, Claudine ^c   Abramowicz, Marc ^b   Malvaux, Paul ^d   Renneboog, Benôit ^a   Parma, Jasmine ^b   Costagliola, Sabine ^a   Vassart, Gilbert ^a,b  

^a UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^b ERASME HOSPITAL   (Belgium)

^c HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^d CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; TRANSCRIPTION FACTOR;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONGENITAL HYPOTHYROIDISM; ECTOPIC THYROID GLAND; FEMALE; GENE CONSTRUCT; GENE MUTATION; HUMAN; NEWBORN; PRIORITY JOURNAL; THYROID DISEASE; THYROID HORMONE SYNTHESIS;

EID: 17744381340     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.86.1.234     Document Type: Article

References (28)

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