Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
free
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
free free
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve Pubget Overpricing |
lüll Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations Tumer Z; Bach-Holm DEur J Hum Genet 2009[Dec]; 17 (12): 1527-39Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the pathogenesis. There are several excellent reviews dealing with the complexity of the phenotype and genotype of ARS. In this study, we will attempt to give a brief review of the clinical features and the relevant diagnostic approaches, together with a detailed review of published PITX2 and FOXC1 mutations.|Abnormalities, Multiple/diagnosis/*genetics/therapy[MESH]|Animals[MESH]|Anterior Eye Segment/abnormalities/embryology[MESH]|Forkhead Transcription Factors/*genetics[MESH]|Homeobox Protein PITX2[MESH]|Homeodomain Proteins/*genetics[MESH]|Humans[MESH]|Mutation/*genetics[MESH]|Syndrome[MESH]|Transcription Factors/*genetics[MESH] |