Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.

by Lore Pottie, Wouter Van Gool, Michiel Vanhooydonck, Franz-Georg Hanisch, Geert Goeminne, Andreja Rajkovic, Paul Coucke, Patrick Sips, Bert Callewaert
Published 2021-06-01

Loss-of-Function Variants in <i>EFEMP1</i> Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

by Maxim Verlee, Aude Beyens, Alper Gezdirici, Elif Yilmaz Gulec, Lore Pottie, Silke De Feyter, Michiel Vanhooydonck, Piyanoot Tapaneeyaphan, Sofie Symoens, Bert Callewaert
Published 2021-03-01

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature

by Aude Beyens, Kyaran Van Meensel, Lore Pottie, Riet De Rycke, Michiel De Bruyne, Femke Baeke, Piet Hoebeke, Frank Plasschaert, Bart Loeys, Sofie De Schepper, Sofie Symoens, Bert Callewaert
Published 2019-07-01