Genetics of vascular Ehlers-Danlos syndrome (vEDS): Part 3 - Pathogenic variants in COL3A1 : haplo-insufficiency by Dr. Ingrid van de Laar, Clinical geneticist, Erasmus Medical Center, Rotterdam, The Netherlands.
The Genetics of vascular Ehlers-Danlos syndrome (vEDS) are explored in three videos. In this video, part 3 of 3 - Pathogenic variants in COL3A1: haplo-insufficiency, the pathogenic variants in the COL3A1 gene that lead to haplo-insufficiency (i.e. only half of the protein being formed) are discussed. The genotype/phenotype correlation associated with this type of variants is presented. Intended for medical students, trainees or other healthcare professionals. Video in English
This Pill of knowledge (PoK) video was filmed at the Medium-Sized Arteries Working Group (MSA WG)'s face to face meeting and vascular Ehlers-Danlos syndrome (vEDS) study day in London on July 1st, 2019 with support from the Ehlers-Danlos Society.
PoKs are the deliverable for VASCERN Work Package 4 on Pills of Knowledge, defined as short single video lessons in which an expert talks about a specific topic that has been selected and validated by the Rare Disease Working Groups (RDWGs).
To learn more about the MSA-WG: vascern.eu/expertise/rare-dis...