Genotype-Phenotype Relationship in Patients with SHOX Region Rearrangements Detected by MLPA in the French Population
Julie Auger(Centre Hospitalier Régional et Universitaire de Nancy), Jean‐Paul Bonnefont(Inserm), Marine Lebrun(Hôpital Nord), Renaud Touraine(Centre Hospitalier Universitaire de Saint-Étienne), Bruno Leheup(Hôpital d'Enfants), Sébastien Schmitt(Centre Hospitalier Universitaire de Nantes), Gaëlle Thierry, Roux Nicolas de, Caroline Elie, Jean‐Marc Costa(Virbac (France)), Marie‐Laure Kottler(Normandie Université), Valérie Cormier‐Daire(Hôpital Necker-Enfants Malades), Amandine Baptiste(Sorbonne Université), Mélanie Amouyal(Inserm)
53rd ESPE Meeting
August 28, 2014
Cited by 0
Related Papers
Nosology and classification of genetic skeletal disorders: 2010 revision
|American Journal of Medical Genetics Part A|2011|717
Nosology and classification of genetic skeletal disorders: 2019 revision
|American Journal of Medical Genetics Part A|2019|620
Nosology and classification of genetic skeletal disorders: 2015 revision
|American Journal of Medical Genetics Part A|2015|570
Nosology of genetic skeletal disorders: 2023 revision
|American Journal of Medical Genetics Part A|2023|386
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
|The American Journal of Human Genetics|2020|334