Open AccessSMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Author(s) -
Natalie D. Shaw,
Harrison Brand,
Zachary A. Kupchinsky,
Hemant Bengani,
Lacey Plummer,
Takako I. Jones,
Serkan Erdin,
Kathleen A. Williamson,
Joe Rainger,
Alexei Stortchevoi,
Kaitlin E. Samocha,
Benjamin Currall,
Donncha S. Dunican,
Ryan L. Collins,
Jason R. Willer,
Angela Lek,
Monkol Lek,
Malik Nassan,
Shahrin Pereira,
Tammy Kammin,
Diane Lucente,
Alexandra Silva,
Catarina M. Seabra,
Colby Chiang,
Yi An,
M Azim Ansari,
Jacqueline K. Rainger,
Shelagh Joss,
Jill Smith,
Margaret Lippincott,
Sylvia Singh,
Nirav Patel,
Jenny W. Jing,
Jennifer Law,
Nalton Ferraro,
Alain Verloes,
Anita Rauch,
Katharina Steindl,
Christiane Zweier,
Ianina Scheer,
Daisuke Satoh,
Nobuhiko Okamoto,
Christina Jacobsen,
Jeanie B. Tryggestad,
Steven D. Chernausek,
Lisa A. Schimmenti,
Benjamin Brasseur,
Claudia Cesaretti,
José Elı́as Garcı́a-Ortiz,
Tatiana Pineda Buitrago,
Orlando Pérez Silva,
Jodi D. Hoffman,
W. Mühlbauer,
Klaus W. Ruprecht,
Bart Loeys,
Masato Shino,
Angela M. Kaindl,
Chie-Hee Cho,
Cynthia C. Morton,
Richard R. Meehan,
Veronica Van Heyningen,
Eric C. Liao,
Ravikumar Balasubramanian,
Janet E. Hall,
Stephanie B. Seminara,
Daniel G. MacArthur,
Steven A. Moore,
Koh-ichiro Yoshiura,
James F. Gusella,
Joseph A. Marsh,
John M. Graham,
Angela E. Lin,
Nicholas Katsanis,
Peter Jones,
William F. Crowley,
Erica E. Davis,
David Fitzpatrick,
Michael E. Talkowski
Publication year - 2017
Publication title -
carolina digital repository (university of north carolina at chapel hill)
Language(s) - English
DOI - 10.17615/tdb3-bx52
Subject(s) - microphthalmia , genetics , biology , medicine , gene