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A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.
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A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.
A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism. Thyroid. 2022 08; 32(8):1000-1002.
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PubMed
subject areas
Congenital Hypothyroidism
Female
Humans
Infant
Male
Mutation
Paired Box Transcription Factors
PAX8 Transcription Factor
Thyroid Dysgenesis
authors with profiles
Alexandra M. Dumitrescu
Samuel Refetoff