نتایج جستجو برای: rieger syndrome

تعداد نتایج: 622129  

Journal: :romanian journal of ophthalmology 2020

Journal: :Journal of Biological Chemistry 1998

Journal: :Indian Journal of Ophthalmology 2011

Journal: :Acta Ophthalmologica Scandinavica 2001

2004
MARTIN KABACK

The Rieger syndrome is caused by an autosomal dominant gene which produces malformations of the anterior chamber of the eye and the teeth. Though a wide spectrum of additional malformations is found, they form no recognisable pattern and so their association is considered to be accidental (Alkemade, 1969). The Axenfeld syndrome consists of two of the three major eye malformations found in the R...

Journal: :Journal of Evidence Based Medicine and Healthcare 2015

Journal: :Journal of medical genetics 1999
W Doward R Perveen I C Lloyd A E Ridgway L Wilson G C Black

Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3' splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters' anomaly. The mutation is a single base substition of A to T at the invariant -2 site of the 3' splice site. Peters' anomaly, which is characterised by...

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