A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference38 articles.
1. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints;Amos-Landgraf;Am J Hum Genet,1999
2. Clinical features in a de novo interstitial deletion 15q13 to q15;Autio;Clin Genet,1988
3. Unexpected familial recurrenceof iris coloboma: a delayed mutation mechanism?;Barros-Nunez;Clin Genet,1995
4. Microphthalmos;Bateman;Int Ophthalmol Clin,1984
5. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain;Bermejo;Am J Med Genet,1998
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