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Article

Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability.

The Journal of clinical endocrinology and metabolism - 1 Nov 2004

de Sanctis Luisa, Corrias Andrea, Romagnolo Damiano, Di Palma Tina, Biava Alessandra, Borgarello Gabriella, Gianino Paola, Silvestro Leandra, Zannini Mariastella, Dianzani Irma

Abstract excerpt

The PAX8 gene, mapped on 2q12-q14, encodes for a transcription factor involved in thyroid cell proliferation and differentiation. Five mutations in PAX8 have been so far described in both sporadic and rare familial forms of thyroid dysgenesis with proposed autosomal dominant inheritance, all associated with thyroid hypoplasia and/or dysfunction. Fifty-four subjects with congenital hypothyroidism detected during...

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Source

Identifiers

PMID: 15531527
DOI: 10.1210/jc.2004-0398

Genes

PAX8

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability.PMID 15531527Read ↗

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A Novel Mutation (Q40P) in PAX8 Associated with Congenital Hypothyroidism and Thyroid Hypoplasia: Evidence for Phenotypic Variability in Mother and ChildSemantic proximity Read ↗

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Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8Semantic proximity Read ↗

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