Next Generation Mendelian Genetics: Ehlers-Danlos Syndrome Type VIII

Study ID Alternative Stable ID Type
phs000540 Case-Control

Study Description

The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases.

Ehlers-Danlos syndrome Type VIII is a dominantly inherited connective tissue disorder that is distinguished from other forms of EDS by significant early-onset periodontal disease. Although the clinical phenotype is well delineated, the underlying molecular basis remains unknown. By studying a large family of affected and unaffected individuals with the EDS VIII by exome sequencing, we hope to identify unique regions of homology to assist in identifying the causative gene.

Archive Link Archive Accession
dbGaP phs000540

Who archives the data?

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