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Article

[Two neonates with congenital aniridia: the necessity of genetic investigation].

Nederlands tijdschrift voor geneeskunde - 8 Mar 2008

van Os E, Niemarkt H J, Verreussel M J T, Cruysberg J R M, Bok L A, Spruijt L

Abstract excerpt

Two female neonates were diagnosed post partum with bilateral aniridia. The first patient had the familial form, caused by a point mutation in the paired box 6 (PAX6) gene. The second patient had a sporadic aniridia caused by a de novo microdeletion involving both the PAX6 gene as well as the Wilms tumour suppressor-I (WT1) gene. This made screening for the presence of a Wilms tumour necessary. The second patient...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18402324

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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