A novel variant of <i>IGSF1</i> in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups
Yoshiko Yamamura,
Maki Fukami,
Misayo Matsuyama
et al.
Abstract:.
Following the partial revision of the enforcement regulations of the School Health and
Safety Act, school health checkups incorporated growth evaluation of schoolchildren in
April 2016 using growth charts. We report cases of congenital central hypothyroidism
(C-CH) in siblings with a novel nonsense variant in the immunoglobulin superfamily member
1 gene (
IGSF1
); their diagnoses were prompted by school health checkups.
School checkups revealed that the older brother was ove… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.