SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D. Shaw(Massachusetts General Hospital), Tatiana Pineda Buitrago(Hospital Universitario Infantil San José), Donncha S. Dunican(Western General Hospital), Nobuhiko Okamoto(Osaka International Cancer Institute), Jenny W Jing(Massachusetts General Hospital), Takako I. Jones(University of Massachusetts Chan Medical School), Lisa A. Schimmenti(University of Minnesota), Ianina Scheer(University Children's Hospital Zurich), Jennifer Law(University of North Carolina at Chapel Hill), Benjamin Brasseur(University of Miami), Kathleen A. Williamson(Institute of Genetics and Cancer), Ryan L. Collins(Broad Institute), Christina M. Jacobsen(Boston Children's Hospital), Jason R. Willer(Duke University), Tammy Kammin(Brigham and Women's Hospital), José Elías García‐Ortíz(Mexican Social Security Institute), Catarina M. Seabra(Universidade do Porto), Malik Nassan(Mayo Clinic), Kaitlin E. Samocha(Harvard University), Katharina Steindl(University of Zurich), Margaret Lippincott(Massachusetts General Hospital), Anita Rauch(University of Zurich), Morad Ansari(Institute of Genetics and Cancer), Zachary A Kupchinsky(Duke Medical Center), Jeanie B. Tryggestad(University of Oklahoma Health Sciences Center), Angela Lek(Muscular Dystrophy Association), Steven D. Chernausek(University of Oklahoma Health Sciences Center), Nalton Ferraro(Boston Children's Hospital), Colby Chiang(Massachusetts General Hospital), Joe Rainger(Roslin Institute), Alexei Stortchevoi(Massachusetts Institute of Technology), Hemant Bengani(Institute of Genetics and Cancer), Serkan Erdin(Baylor College of Medicine), Nirav Patel(Massachusetts General Hospital), Claudia Cesaretti(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Benjamin Currall(University of Miami), Alexandra Silva(Massachusetts General Hospital), Daisuke Sato(Hokkaido University), Yu An(Massachusetts General Hospital), Markus Zweier(University of Zurich), Jacqueline K. Rainger(Western General Hospital), Shelagh Joss(Queen Elizabeth University Hospital), Monkol Lek(Broad Institute), Diane Lucente, Shahrin Pereira(Brigham and Women's Hospital), Jill Smith(Manchester Academic Health Science Centre), Sylvia Singh(Ludwig-Maximilians-Universität München), Harrison Brand(Broad Institute), Lacey Plummer(Massachusetts General Hospital), Alain Verloès(Assistance Publique – Hôpitaux de Paris)
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