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Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
Deletion of 1q in a patient with acrofacial dysostosis
D J Waggoner1, D J Ciske, S B Dowton
1Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
American Journal of Medical Genetics
|March 2, 1999
Abstract:
The Nager syndrome is the most common form of acrofacial dysostosis. Although autosomal dominant and recessive forms of acrofacial dysostosis have been described the molecular etiology of these disorders is unknown. We report on a child with acrofacial dysostosis, critical aortic stenosis, and a deletion of chromosome 1q involving the heterochromatic block and adjacent euchromatin.
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