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- W4281478088 abstract "We report a 10-month-old girl with familial congenital hypothyroidism harboring a novel heterozygous pathogenic variant in the paired DNA-binding domain of PAX8 (NM_003466:c.110T>C:p.Leu37Pro). Genotype–phenotype correlation revealed complete penetrance of this PAX8 defect in this family, in which the affected father and half-brother carry the same mutation. This deleterious variant has not been reported in any of the available databases [MAFgnomAD = 0, dbSNP (−)], and the amino acid leucine at position 37 is highly conserved across species. Establishing the molecular diagnosis expands our knowledge on the cause of thyroid dysgenesis and provides a guide for counseling and early treatment." @default.
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- W4281478088 date "2022-08-01" @default.
- W4281478088 modified "2023-10-17" @default.
- W4281478088 title "A Novel Pathogenic Variant in <i>PAX8</i> Leads to Familial Congenital Hypothyroidism" @default.
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- W4281478088 doi "https://doi.org/10.1089/thy.2022.0117" @default.
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