A novel mutation (Q40p) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia : Evidence for phenotypic variability in mother and child

CONGDON, Tamara ; NGUYEN, Lynda Q ; NOGUEIRA, Celia R ; HABIBY, Reema L ; MEDEIROS-NETO, Geraldo ; KOPP, Peter

The journal of clinical endocrinology and metabolism, 2001-08, Vol.86 (8), p.3962-3967 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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