Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes

European Journal of Human Genetics

Volumn 13, Issue 2, 2005, Pages 232-239

  Castanet, Mireille ^a,b   Sura Trueba, Sylvia ^a,b   Chauty, Anne ^a,b   Carré, Aurore ^a,b   de Roux, Nicolas ^b,c   Heath, Simon ^d   Léger, Juliane ^a   Lyonnet, Stanislas ^b   Czernichow, Paul ^a   Polak, Michel ^a,b  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c BICÊTRE HOSPITAL   (France)

^d CENTRE NATIONAL DE GÉNOTYPAGE   (France)

Author keywords

Familial disorder; Pax8; Thyroid dysgenesis; TSHR; TTF1; TTF2

Indexed keywords

THYROID HORMONE RECEPTOR; THYROID TRANSCRIPTION FACTOR 1; THYROID TRANSCRIPTION FACTOR 2; TRANSCRIPTION FACTOR PAX8;

ARTICLE; COMPARATIVE GENE MAPPING; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; GENE IDENTIFICATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC LINKAGE; HAPLOTYPE; HUMAN; HYPOTHESIS; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; ORGANOGENESIS; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; THYROID DISEASE; THYROID DYSGENESIS;

DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPOTHYROIDISM; LOD SCORE; MALE; PEDIGREE; RECEPTORS, THYROID HORMONE; THYROID GLAND; TRANSCRIPTION FACTORS;

EID: 13544273520     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201321     Document Type: Article

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