Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.


Bereket A., Liao X., Turoglu T., Aribal E., Refetoff S.

Journal of pediatric endocrinology & metabolism : JPEM, vol.17, pp.1021-9, 2004 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 17
  • Publication Date: 2004
  • Doi Number: 10.1515/jpem.2004.17.7.1021
  • Journal Name: Journal of pediatric endocrinology & metabolism : JPEM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1021-9
  • Keywords: thyroid dysgenesis, PAX8 gene, congenital hypothyroidism, ectopic thyroid, hypoplastic thyroid, TRANSCRIPTION FACTOR-I, THYROTROPIN RECEPTOR GENE, OF-FUNCTION MUTATION, CLEFT-PALATE, RESPIRATORY-FAILURE, FAMILIAL OCCURRENCE, 2 SIBLINGS, HYPOPLASIA, GLAND, MOTHER
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No