Article
A mouse model demonstrates a multigenic origin of congenital hypothyroidism.
Endocrinology - 1 Dec 2005
Amendola Elena, De Luca Pasquale, Macchia Paolo Emidio, Terracciano Daniela, Rosica Annamaria, Chiappetta Gennaro, Kimura Shioko, Mansouri Ahmed, Affuso Andrea, Arra Claudio, Macchia Vincenzo, Di Lauro Roberto, De Felice Mario
Abstract excerpt
Congenital hypothyroidism with thyroid dysgenesis (TD) is a frequent human condition characterized by elevated levels of TSH in response to reduced thyroid hormone levels. Congenital hypothyroidism is a genetically heterogeneous disease. In the majority of cases studied, no causative mutations have been identified and very often the disease does not show a Mendelian transmission. However, in approximately 5% of...
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