A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child

Tamara Congdon, Lynda Q. Nguyen, Celia R. Nogueira, Reema L. Habiby, Geraldo Medeiros-Neto, Peter Kopp*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

117 Scopus citations

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Neuroscience

Biochemistry, Genetics and Molecular Biology