Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1

@article{Grasberger2005IdentificationOA,
  title={Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1},
  author={H. Grasberger and M. Vaxillaire and S. Pannain and J. Beck and A. Mimouni-Bloch and V. Vatin and G. Vassart and P. Froguel and S. Refetoff},
  journal={Human Genetics},
  year={2005},
  volume={118},
  pages={348-355}
}
Permanent congenital hypothyroidism is the most prevalent inborn endocrine disorder, and principally due to developmental defects leading to absent, ectopic or hypoplastic thyroid gland. Although commonly regarded as sporadic disease, nonsyndromic thyroid hypoplasia has, in rare cases, been attributed to inherited defects in PAX8 and the TSHR gene. The shared clinical picture caused by these defects is a variable degree of thyrotropin resistance (RTSH [MIM 275200]), accompanied in its severe… Expand
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