Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
Víctor L. Ruiz‐Pérez(Centre for Biomedical Network Research on Rare Diseases), Judith Goodship(Newcastle University), Bruno Dallapiccola(Bambino Gesù Children's Hospital), Michael Wright(Newcastle upon Tyne Hospital), Mihael H. Polymeropoulos(Novartis (Switzerland)), Clair A. Francomano(Indiana University – Purdue University Indianapolis), Kathryn Woods‐Townsend(Newcastle University), Stephanie Spranger(University Medical Center Groningen), Peter Freisinger(TUM Klinikum), David I. Wilson(Auckland University of Technology), Bruno Marino(Bambino Gesù Children's Hospital), Lynn King(National Institutes of Health), Tim M. Strom(Ludwig-Maximilians-Universität München), Thomas Meitinger(Helmholtz Zentrum München), Bettina Lorenz(Ludwig-Maximilians-Universität München), Susan Ide(Novartis (Switzerland))
Cited by 356
Related Papers
The 2017 international classification of the Ehlers–Danlos syndromes
|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2017|1.9k
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
|Journal of Medical Genetics|1997|1.2k