KEGG   VARIANT: 7849v2
Entry
7849v2                      Variant                                
Name
PAX8 mutation
Type
Loss of function
Gene
PAX8  paired box 8 [KO:K09293]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 167415
Network
nt06322  TRH-TSH-TH signaling
Disease
H00250  Congenital nongoitrous hypothyroidism (CHNG)
Reference
  Authors
Fu C, Chen R, Zhang S, Luo S, Wang J, Chen Y, Zheng H, Su J, Hu X, Fan X, Luo J, Yi S, Lai Y, Li C, Xie B, Shen Y, Gu X, Chen S
  Title
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.
  Journal
Clin Chim Acta 450:322-6 (2015)
DOI:10.1016/j.cca.2015.09.008
Reference
  Authors
Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P
  Title
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.
  Journal
J Clin Endocrinol Metab 86:3962-7 (2001)
DOI:10.1210/jcem.86.8.7765
Reference
  Authors
Peters C, van Trotsenburg ASP, Schoenmakers N
  Title
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
  Journal
Eur J Endocrinol 179:R297-R317 (2018)
DOI:10.1530/EJE-18-0383
Reference
  Authors
Vono-Toniolo J, Kopp P
  Title
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
  Journal
Arq Bras Endocrinol Metabol 48:70-82 (2004)
DOI:10.1590/S0004-27302004000100009
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