Genetic Testing of PAX8 Mutations Associated with Thyroid Dysgenesis in Chinese Congenital Hypothyroidism Patients.

CONCLUSION: We conducted the largest PAX8 mutation screening so far in TD patients for the first time worldwide. Three presumably pathogenic PAX8 mutations were detected in 289 TD cases for the first time, showing the mutation rate of PAX8 is 1.04% in Chinese TD patients. In addition, our study expands the gene mutation spectrum of TD.
PMID: 32096550 [PubMed - as supplied by publisher]

Source: Endokrynologia Polska - February 24, 2020 Category: Endocrinology Authors: Li M, Wang F, Wang X, Zang Y, Wang W, Wang F, Zhang L, Tang Q, Liu S, Zhao D Tags: Endokrynol Pol Source Type: research