Entry
Name
Gene
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
Network
Disease
H00251 Thyroid dyshormonogenesis
Reference
Authors
Srichomkwun P, Takamatsu J, Nickerson DA, Bamshad MJ, Chong JX, Refetoff S
Title
DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.
Journal
Reference
Authors
Maruo Y, Takahashi H, Soeda I, Nishikura N, Matsui K, Ota Y, Mimura Y, Mori A, Sato H, Takeuchi Y
Title
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.
Journal
Reference
Authors
Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C
Title
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.
Journal
Reference
Authors
Peters C, van Trotsenburg ASP, Schoenmakers N
Title
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
Journal
Reference
Authors
Vono-Toniolo J, Kopp P
Title
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
Journal
Reference
Authors
Targovnik HM, Citterio CE, Rivolta CM
Title
Iodide handling disorders (NIS, TPO, TG, IYD).
Journal
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