A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism.

Cangul, Hakan

A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism. [electronic resource] - Journal of pediatric endocrinology & metabolism : JPEM Jul 2014 - 731-5 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

2191-0251

10.1515/jpem-2014-0011 doi


Adolescent
Child, Preschool
Congenital Hypothyroidism--genetics
Consanguinity
Exons
Female
Humans
Infant, Newborn
Receptors, Thyrotropin--genetics
Reverse Transcriptase Polymerase Chain Reaction
Sequence Deletion
Thyroid Dysgenesis--genetics
Young Adult