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

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Description scientific article
Author/s

author: Lisa A Schimmenti  Kaitlin E Samocha  Michael E. Talkowski  Veronica van Heyningen  Catarina M Seabra  Margaret F Lippincott  Ryan L Collins  Serkan Erdin  Alain Verloes  Janet E. Hall  Colby Chiang  Angela Kaindl  David FitzPatrick  Stephanie B Seminara  Natalie D. Shaw  Steven A Moore  Peter L. Jones  Alexei Stortchevoi  Tammy Kammin  Cynthia Morton  Jodi Hoffman  Takako I. Jones  Lacey Plummer  Harrison Brand  Diane Lucente  James F. Gusella  Bart L Loeys  Benjamin B Currall  Nicholas Katsanis  William F. Crowley  Joseph A. Marsh  Claudia Cesaretti  Shahrin Pereira 

Publication date January 9, 2017
Language English
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