Genetics of Thyroid Development, Regulation and Thyroid Hormone Action


Resistance to Thyroid Hormone Mediated By a Missense Mutation in Thyroid Receptor Alpha 1 and Alpha 2 Splice Variant
Carla M Moran, Maura Agostini, Edward Visser, Erik Schoenmakers, Nadia Schoenmakers, Odelia Rajanayagam, Amaka Offiah, Greta Lyons, David Halsall, Mark Gurnell, Simon J B Aylwin and V Krishna K Chatterjee


A Mutation in a Liver-Specific Transcription Enhancer As a Novel Mechanism for X-Chromosome Linked TBG Deficiency
Theodora Pappa, Alfonso Massimiliano Ferrara, Jiao Fu, Xiao-Hui Liao, Alexandra M Dumitrescu, Christopher D Brown, April Peterson, Lars C Moeller, Kathleen Wyne, Kevin P White, Roy E Weiss and Samuel Refetoff


Clinical and Molecular Characterization of the Largest Family with Congenital Hypothyroidism Due to a PAX8 Mutation
Kiyomi Abe, Satoshi Narumi, Junko Nishioka, Shuichi Yatsuga, Tateo Kuno, Kaori Kameyama and Tomonobu Hasegawa


Strong Genotype-Phenotype Correlation in Pendred Syndrome Allows Reduced Endocrine Follow-up in Suitable Patients
Lip Min Soh, Maralyn Druce, Ashley B Grossman, Ann-Marie Differ, Liala Rajput, Maria Bitner-Glindzicz and Márta Korbonits