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={Helmut Grasberger and Martine Vaxillaire and Silvana Pannain and John C. Beck and Aviva Mimouni-Bloch and Vincent Vatin and Gilbert Vassart and Philippe Froguel and Samuel 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… 
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  • M. Al-Qahtani
  • Medicine
    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
  • 2020
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