[BMJ] Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations

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journal:Journal of Medical Genetics

Authors:Katalin Szakszon; Charles Marques Lourenco; Bert Louis Callewaert; David Geneviève; Flavien Rouxel; Denis Morin; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Wesley G Patterson; Raymond Louie; Filippo Pinto e Vairo; Eric Klee; Charu Kaiwar; Ralitza H Gavrilova; Katherine E Agre; Sebastien Jacquemont; Jizi Khadijé; Jacques Giltay; Koen van Gassen; Gabriella Mer; Erica Gerkes; Bregje W Van Bon; Tuula Rinne; Rolph Pfundt; Han G Brunner; Oana Caluseriu; Ute Grasshoff; Martin Kehrer; Tobias B Haack; Melik Malek Khelifa; Anke Katharina Bergmann; Anna Maria Cueto-González; Ariadna Campos Martorell; Shwetha Ramachandrappa; Lindsey B Sawyer; Pascale Fasel; Dominique Braun; Atallah Isis; Andrea Superti-Furga; Vanda McNiven; David Chitayat; Syed Anas Ahmed; Heiko Brennenstuhl; Eva MC Schwaibolf; Gladys Battisti; Benoit Parmentier; Servi J C Stevens

Published date:2024-2-

DOI:10.1136/jmg-2022-109030

PDF link:https://syndication.highwire.org ... 136/jmg-2022-109030

Article link:https://doi.org/10.1136/jmg-2022-109030

Article Source:BMJ


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