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Expert
Reviews in Molecular Medicine: http://www.expertreviews.org/
Accession information: Vol. 7; Issue 25; 8 November 2005 Abstract
PDF
Summary of Axenfeld–Rieger syndrome phenotypes associated with nondeletion mutations in specific genes
Tord A. Hjalt and Elena V. Semina
| Table 1. Summary of Axenfeld–Rieger syndrome phenotypes associated with nondeletion mutationsa in specific genes | ||||
| Gene | Number of familiesb | Ocular defects | Facial defectsc | Umbilical defects |
| PITX2 | 33 | 33 | 31 | 31 |
| FOXC1 | 28 | 28 | 3 | 0 |
| 13q14 | 1 | 1 | 1 | 0 |
| a
Deletions are excluded from the table, as neighbouring genes might also
be affected; thus PAX6 is not listed. b Total number of independently reported families with gene mutations (excludes large deletions/duplications). c Number of families with at least one affected person showing nonocular facial abnormalities. |
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