## Abstract ## BACKGROUND Mutations in the __PITX2__ homeobox gene are known to contribute to Axenfeld‐Rieger syndrome (ARS), an autosomal‐dominant developmental disorder. Although most mutations are in the homeodomain and result in a loss of function, there is a growing subset in the C‐terminal d
Morphology of the sella turcica in Axenfeld–Rieger syndrome with PITX2 mutation
✍ Scribed by P. Meyer-Marcotty; N. Weisschuh; P. Dressler; J. Hartmann; A. Stellzig-Eisenhauer
- Book ID
- 111255132
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 319 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0904-2512
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract Axenfeld‐Rieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with glaucoma. Mutation of the __PITX2__ homeobox gene has been identified as a cause of ARS. We report a novel Arg5Trp missense mutatio
Disease-causing mutations affecting either one of the transcription factor genes, PITX2 or FOXC1, have been previously identified in patients with Axenfeld-Rieger syndrome (AR). We identified a family who segregate novel mutations in both PITX2 (p.Ser233Leu) and FOXC1 (c.609delC). The most severely
## Abstract This study reports a 25‐year follow‐up of a patient with De Hauwere syndrome (Axenfeld–Rieger anomaly, hydrocephalus, and hearing loss) whose intelligence is normal. Short stature and hyperlaxity of joints later leading to severe joint pain were noted. Mutation analysis of candidate gen