@article{article6bfc5a96, title = {A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child}, author = {Congdon, Tamara and Nguyen, Lynda Q. and Nogueira, Celia R. and Habiby, Reema L. and Kopp, Peter and Medeiros Neto, Geraldo}, year = {2001}, journal = {The Journal of Clinical Endocrinology & Metabolism} }