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

Next Generation Mendelian Genetics: Ehlers-Danlos Syndrome Type VIII

1 selected publication including "Ehlers–Danlos type VIII, periodontitis‐type: Further delineation of th..." (17 citations)

Next Generation Mendelian Genetics: Ehlers-Danlos Syndrome Type VIII

Ehlers–Danlos type VIII, periodontitis‐type: Further delineation of the syndrome in a four‐generation pedigree