Deletion of 1q in a patient with acrofacial dysostosis

Autor:	David J. Ciske, Darrel Waggoner, Michael S. Watson, S. Bruce Dowton
Rok vydání:	1999
Předmět:	Genetics Arterial disease fungi medicine Dysostosis Nager Acrofacial Dysostosis Syndrome Congenital disease Biology Long arm medicine.disease Aortic disease Genetics (clinical)
Zdroj:	American Journal of Medical Genetics. 82:301-304
ISSN:	1096-8628 0148-7299
DOI:	10.1002/(sici)1096-8628(19990212)82:4<301::aid-ajmg5>3.0.co;2-j
Popis:	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. Am. J. Med. Genet. 82:301–304, 1999. © 1999 Wiley-Liss, Inc.
Databáze:	OpenAIRE
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