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Axenfeld-Rieger syndrome type 1
Summary
- Synonym
-
- RIEG1
- Rieger syndrome type 1
- Definition
- An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.
- Super Class
- Axenfeld-Rieger syndrome
