SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome | Zendy

Natalie D. Shaw | Zendy; Harrison Brand | Zendy; Zachary A Kupchinsky | Zendy; Hemant Bengani | Zendy; Lacey Plummer | Zendy; Takako I. Jones | Zendy; Serkan Erdin | Zendy; Kathleen A. Williamson | Zendy; Joe Rainger | Zendy; Alexei Stortchevoi | Zendy; Kaitlin E. Samocha | Zendy; Benjamin Currall | Zendy; Donncha S. Dunican | Zendy; Ryan L. Collins | Zendy; Jason R. Willer | Zendy; Angela Lek | Zendy; Monkol Lek | Zendy; Malik Nassan | Zendy; Shahrin Pereira | Zendy; Tammy Kammin | Zendy; Diane Lucente | Zendy; Alexandra Silva | Zendy; Catarina M. Seabra | Zendy; Colby Chiang | Zendy; Yu An | Zendy; Morad Ansari | Zendy; Jacqueline K. Rainger | Zendy; Shelagh Joss | Zendy; Jill Smith | Zendy; Margaret Lippincott | Zendy; Sylvia Singh | Zendy; Nirav Patel | Zendy; Jenny W Jing | Zendy; Jennifer Law | Zendy; Nalton Ferraro | Zendy; Alain Verloès | Zendy; Anita Rauch | Zendy; Katharina Steindl | Zendy; Markus Zweier | Zendy; Ianina Scheer | Zendy; Daisuke Satoh | Zendy; Nobuhiko Okamoto | Zendy; C. Jacobsen | Zendy; Jeanie B. Tryggestad | Zendy; Steven D. Chernausek | Zendy; Lisa A. Schimmenti | Zendy; Benjamin Brasseur | Zendy; Claudia Cesaretti | Zendy; José Elías GarcíaOrtíz | Zendy; Tatiana Pineda Buitrago | Zendy; Orlando Pérez Silva | Zendy; Jodi D. Hoffman | Zendy; W. Mühlbauer | Zendy; Klaus W. Ruprecht | Zendy; Bart Loeys | Zendy; Masato Shino | Zendy; Angela M. Kaindl | Zendy; Chie Hee Cho | Zendy; Cynthia C. Morton | Zendy; Richard R. Meehan | Zendy; Veronica van Heyningen | Zendy; Eric C. Liao | Zendy; Ravikumar Balasubramanian | Zendy; Janet E. Hall | Zendy; Stephanie B. Seminara | Zendy; Daniel G. MacArthur | Zendy; Steven A. Moore | Zendy; Koh-ichiro Yoshiura | Zendy; James F. Gusella | Zendy; Joseph A. Marsh | Zendy; John M. Graham | Zendy; Angela E. Lin | Zendy; Nicholas Katsanis | Zendy; Peter Lloyd Jones | Zendy; William F. Crowley | Zendy; Erica E. Davis | Zendy; David Fitzpatrick | Zendy; Michael E. Talkowski | Zendy

Open Access

SMCHD1 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,

Yu An,

Morad Ansari,

Jacqueline K. Rainger,

Shelagh Joss,

Jill Smith,

Margaret Lippincott,

Sylvia Singh,

Nirav Patel,

Jenny W Jing,

Jennifer Law,

Nalton Ferraro,

Alain Verloès,

Anita Rauch,

Katharina Steindl,

Markus Zweier,

Ianina Scheer,

Daisuke Satoh,

Nobuhiko Okamoto,

C. Jacobsen,

Jeanie B. Tryggestad,

Steven D. Chernausek,

Lisa A. Schimmenti,

Benjamin Brasseur,

Claudia Cesaretti,

José Elías GarcíaOrtíz,

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 Lloyd 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

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