COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis.
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DOI: 10.1016/j.pediatrneurol.2016.04.010
Abstract: BACKGROUND COL4A1 on chromosome 13q34 encodes the alpha 1 chain of type IV collagen, a component of basal membranes. It is expressed mainly in the brain, muscles, kidneys, and eyes. COL4A1 mutations can remain asymptomatic… read more here.
Keywords: segment dysgenesis; anterior segment; stroke anterior; intrauterine stroke ... See more keywords
Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1
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DOI: 10.3390/genes13030411
Abstract: Anterior segment dysgenesis (ASD) encompasses a wide spectrum of developmental abnormalities of the anterior ocular segment, including congenital cataract, iris hypoplasia, aniridia, iridocorneal synechiae, as well as Peters, Axenfeld, and Rieger anomalies. Here, we report… read more here.
Keywords: truncating variant; novel truncating; segment dysgenesis; anterior segment ... See more keywords
Anterior segment dysgenesis: Insights into the genetics and pathogenesis
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DOI: 10.4103/ijo.ijo_3223_21
Abstract: Childhood glaucoma is a treatable cause of blindness, provided it is recognized, diagnosed, and treated in time. WHO has estimated that it is responsible for Blind Years second only to cataracts. The fundamental pathophysiology of… read more here.
Keywords: dysgenesis insights; insights genetics; segment dysgenesis; anterior segment ... See more keywords
An unusual case of bilateral pigmented maculopathy and anterior segment dysgenesis
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DOI: 10.5301/ejo.5001073
Abstract: Purpose: Pigmentary maculopathy can occur in the context of various inherited and acquired diseases. Anterior segment dysgenesis arises due to developmental anomalies and may be associated with systemic disease, as in Rieger syndrome. Case report:… read more here.
Keywords: case bilateral; segment dysgenesis; anterior segment;
Primary cilia deficiency in neural crest cells models anterior segment dysgenesis in mouse
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DOI: 10.7554/elife.52423
Abstract: Defects affecting tissues of the anterior segment (AS) of the eye lead to a group of highly debilitating disorders called Anterior Segment Dysgenesis (ASD). Despite the identification of some causative genes, the pathogenesis of ASD… read more here.
Keywords: anterior segment; crest cells; primary cilia; neural crest ... See more keywords