Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

by Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian
Published 2017-01-01

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder

by Malika Foy, Philippe De Mazancourt, Corinne Métay, Robert Carlier, Valérie Allamand, Corine Gartioux, Fabrice Gillas, Nawel Miri, Valérie Jobic, Ahmed Mekki, Pascale Richard, Caroline Michot, Karelle Benistan
Published 2021-09-01

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

by Aurélien Perrin, Corinne Metay, Marcello Villanova, Robert‐Yves Carlier, Elena Pegoraro, Raul Juntas Morales, Tanya Stojkovic, Isabelle Richard, Pascale Richard, Norma B. Romero, Henk Granzier, Michel Koenig, Edoardo Malfatti, Mireille Cossée
Published 2020-05-01

Novel dominant distal titinopathy phenotype associated with copy number variation

by Aurélien Perrin, Raul Juntas Morales, Françoise Chapon, Corinne Thèze, Delphine Lacourt, Henri Pégeot, Emmanuelle Uro‐Coste, Diane Giovannini, Nicolas Leboucq, Martial Mallaret, Emmeline Lagrange, Valérie Rigau, Karen Gaudon, Pascale Richard, Michel Koenig, Corinne Métay, Mireille Cossée
Published 2021-09-01

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Familie...

by Raul Juntas Morales, Aurélien Perrin, Guilhem Solé, Delphine Lacourt, Henri Pegeot, Ulrike Walther-Louvier, Pascal Cintas, Claude Cances, Caroline Espil, Corinne Theze, Reda Zenagui, Kevin Yauy, Elodie Cosset, Dimitri Renard, Valerie Rigau, Andre Maues de Paula, Emmanuelle Uro-Coste, Marie-Christine Arne-Bes, Marie-Laure Martin Négrier, Nicolas Leboucq, Blandine Acket, Edoardo Malfatti, Valérie Biancalana, Corinne Metay, Pascale Richard, John Rendu, François Rivier, Michel Koenig, Mireille Cossée
Published 2021-07-01