A Novel Homozygous Mutation of Thyroid Peroxidase Gene Abolishes a Disulfide Bond Leading to Congenital Hypothyroidism

Congenital hypothyroidism (CH) is the most prevalent congenital endocrine disorder and causes mental retardation. A male Japanese patient with first cousin marriage parents was diagnosed as CH at 10 months. He was born before introduction of mass screening for CH. With continuous thyroid hormone rep...

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Dettagli Bibliografici
Pubblicato in:Int J Endocrinol
Autori principali: Yakou, Fumiyoshi, Suwanai, Hirotsugu, Ishikawa, Takuya, Itou, Mariko, Shikuma, Jumpei, Miwa, Takashi, Sakai, Hiroyuki, Kanekura, Kohsuke, Narumi, Satoshi, Suzuki, Ryo, Odawara, Masato
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hindawi 2020
Soggetti:
Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7477596/
https://ncbi.nlm.nih.gov/pubmed/32908504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/9132372
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