Study

Next Generation Mendelian Genetics: Auriculocondylar syndrome (ACS)

Study ID Alternative Stable ID Type
phs000437 Parent-Offspring Trios

Study Description

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.

Archive Link Archive Accession
dbGaP phs000437

Who archives the data?

There are no publications available