Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
Gail C. Jackson(Wellcome Centre for Cell-Matrix Research), Michael D. Briggs(Centre for Life), Lauréane Mittaz‐Crettol(University of Lausanne), Andrea Superti‐Furga(University of Lausanne), Geert Mortier(Center for Human Genetics), Gen Nishimura(Musashino University), Jacqueline Taylor(St Bartholomew's Hospital), J Spranger(University of Freiburg), Bernhard Zabel(Johannes Gutenberg University Mainz), Andreas Zankl(The University of Sydney), Luisa Bonafé(University of Lausanne), Amaka C Offiah(University of Sheffield), Sheila Unger(University of Lausanne), Simon Ramsden(Manchester University NHS Foundation Trust), Michael Wright(United States Department of the Army), Martine Le Merrer(Hôpital Necker-Enfants Malades), Christine M Hall(Great Ormond Street Hospital), Ravi Savarirayan(Royal Children's Hospital), Rob Elles, Valérie Cormier‐Daire(Hôpital Necker-Enfants Malades)
Cited by 129
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