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Article

Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.

Ophthalmic genetics - 1 Dec 2024

Tian Yu, Zhou Xiao-Xia, Zhao Su-Zhou, Peng Mei, Jia Jia

Abstract excerpt

BACKGROUND: Axenfeld-Rieger syndrome (ARS, OMIM:602482) is a genetic disease characterized by ocular and systemic features. Clinical features of ARS are highly variable among patients and associated with mutations of human PITX2 and FOXC1 genes. Herein, we present an ARS in two cases (proband and his mother) with a novel variant in the PITX2. METHODS: A 3-month-old boy was admitted with an abnormal eye...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39587444
DOI: 10.1080/13816810.2024.2414901

Genes

PITX2
FOXC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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