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Article

PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.

European journal of human genetics : EJHG - 1 Nov 2000

Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier A L, Augé J, Bouissou F, Antignac C, Gubler M C, Eccles M R, Munnich A, Vekemans M, Lyonnet S, Attié-Bitach T

Abstract excerpt

The renal-coloboma syndrome (RCS, MIM 120330) is an autosomal dominant disorder caused by PAX2 gene mutations. We screened the entire coding sequence of the PAX2 gene for mutations in nine patients with RCS. We found five heterozygous PAX2 gene mutations: a dinucleotide insertion (2G) at position...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 11093271
DOI: 10.1038/sj.ejhg.5200539

Genes

PAX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11093271-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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