Table of contents

Phenotypes

• Original research:

  Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines

  (5 April, 2021)

  Lukas Nollet, Laurence Campens, Julie De Zaeytijd, Bart Leroy, Dimitri Hemelsoet, Paul J Coucke, Olivier M Vanakker
• Short report:

  Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

  (2 April, 2021)

  Marion Aubert Mucca, Olivier Patat, Sandra Whalen, Lionel Arnaud, Giulia Barcia, Julien Buratti, Benjamin Cogné, Diane Doummar, Caroline Karsenty, Sandra Kenis, Eric Leguern, Gaetan Lesca, Caroline Nava, Mathilde Nizon, Amelie Piton, Stéphanie Valence, Laurent Villard, Sarah Weckhuysen, Boris Keren, Cyril Mignot
• Short report:

  Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

  (28 June, 2021)

  Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian HY Chung, Marcus CY Chan, Jasmine LF Fung, Edwin Cook, Stephen Guter, Felix Boschann, Andre Heinen, Jens Schallner, Cyril Mignot, Boris Keren, Sandra Whalen, Catherine Sarret, Dana Mittag, Laurie Demmer, Rachel Stapleton, Ken Saida, Naomichi Matsumoto, Noriko Miyake, Ruth Sheffer, Hagar Mor-Shaked, Christopher P Barnett, Alicia B Byrne, Hamish S Scott, Alison Kraus, Gerarda Cappuccio, Nicola Brunetti-Pierri, Raffaele Iorio, Fabiola Di Dato, Lynn S Pais, Alison Yeung, Tiong Y Tan, Jenny C Taylor, John Christodoulou, Susan M White