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Next Generation Mendelian Genetics: Auriculocondylar Syndrome (ACS)

ABSTRACT:

This project is part of an ongoing project to identify the molecular genetic basis of rare craniofacial disorders. This specific project involved the collection of DNA samples from four probands with severe manifestations of auriculocondylar syndrome and their parents. Detailed clinical phenotypic data is available on each proband. The sole purpose of this research is to identify the molecular cause(s) of auriculochondylar syndrome.

PROVIDER: phs000437 | dbGaP |

SECONDARY ACCESSION(S): PRJNA80195PRJNA80193

REPOSITORIES: dbGaP

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Dataset's files

Source:

			Action	DRS
	GapExchange_phs000437.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs000437.Mendelian_ACS.v1.p1.MULTI.pdf	Pdf
	manifest_phs000437.Mendelian_ACS.v1.p1.c1.DS-CFD.pdf	Pdf
	datadict_v2.xsl	Other

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