Session 11B: Genetics and HHT

10 Jun 2017
3:35 pm - 4:35 pm
Soderini Ballroom II, III

Session 11B: Genetics and HHT

Oral Presentations

3:35pm – 3:50pm

Are there any further HHT genes to be discovered?—an exome sequences study

Tørring PM, Brusgaard K, Kjeldsen AD, Pinheiro R, Ousager LB


3:50pm – 4:05pm

Variants in endoglin and non-HHT phenotypes

Brilliant M, Hoch B, Ye Z, Mayer J, Hebbring S


4:05pm – 4:20pm

Next generation sequencing in HHT genetic diagnosis

Giraud S, Auboiroux C, Chambe, Dupuis-Girod S, Riviere S, Harle JR, Gerard M, Astudillo L, Mohamed S, Lesca G, Calender A


4:20pm – 4:35pm

Two interesting cases of molecular diagnosis for HHT: low-level mosaicism and abnormal splicing of ACVRL1

Trevors C, Jessen J, Racher H, Lambourne M, Letarte M, Billie Au P-Y, Perrier R