换一批SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
第一作者：
Shaw, Natalie D.
作者：
Shaw, Natalie D. [1]
;
Brand, Harrison [2]
;
Kupchinsky, Zachary A. [3]
;
Bengani, Hemant [4]
;
Plummer, Lacey [5]
;
Jones, Takako I. [6]
;
Erdin, Serkan [7]
;
Williamson, Kathleen A. [8]
;
Rainger, Joe [9]
;
Stortchevoi, Alexei [10]
;
Samocha, Kaitlin [11]
;
Curra, Benjamin B. [12]
;
Dunican, Donncha S. [13]
;
Collins, Ryan L. [14]
;
Willer, Jason R. [15]
;
Lek, Angela [16]
;
Lek, Monkol [17]
;
Nassan, Malik [18]
;
Pereira, Shahrin [19]
;
Kammin, Tammy [20]
;
Lucente, Diane [21]
;
Silva, Alexandra [22]
;
Seabra, Catarina M. [23]
;
Chiang, Colby [24]
;
Ana, Yu [25]
;
Ansari, Morad [26]
;
Rainger, Jacqueline K. [27]
;
Joss, Shelagh [28]
;
Smith, Jill Clayton [29]
;
Lippincott, Margaret F. [30]
;
Singh, Sylvia S. [31]
;
Patel, Nirav [32]
;
Jing, Jenny W. [33]
;
Law, Jennifer R. [34]
;
Ferraro, Nalton [35]
;
Verloes, Main [36]
;
Rauch, Anita [37]
;
Steindl, Katharina ;
Zweier, Markus ;
Scheer, Ianina ;
Sato, Daisuke ;
Okamoto, Nobuhiko ;
Jacobsen, Christina ;
Tryggestad, Jeanie ;
Chernausek, Steven ;
Schimmenti, Lisa A. ;
Brasseur, Benjamin ;
Cesaretti, Claudia ;
Garcia-Ortiz, Jose E. ;
Pineda Buitrago, Tatiana ;
Perez Silva, Orlando ;
Hoffman, Jodi D. ;
Muehlbauer, Wolfgang ;
Ruprecht, Klaus W. ;
Loeys, Bart L. ;
Shino, Masato ;
Kaind, Angela M. ;
Cho, Chie-Hee ;
Morton, Cynthia C. ;
Meehan, Richard R. ;
van Heyningen, Veronica ;
Liao, Eric C. ;
Balasubramanian, Ravikumar ;
Hall, Janet E. ;
Seminara, Stephanie B. ;
Macarthur, Daniel ;
Moore, Steven A. ;
Yoshiura, Koh-ichiro ;
Gusella, James F. ;
Marsh, Joseph A. ;
Graham, John M., Jr. ;
Lin, Angela E. ;
Katsanis, Nicholas ;
Jones, Peter L. ;
Crowley, William F., Jr. ;
Davis, Erica E. ;
FitzPatrick, David R. ;
Talkowski, Michael E.
作者单位：
Mayo Clin, Dept Psychiat & Psychol, Rochester, MN 55905 USA
[1]
Mayo Clin, Dept Otorhinolaryngol, Rochester, MN 55905 USA
[2]
Duke Univ, Med Ctr, Ctr Human Dis Modeling, Durham, NC 27708 USA
[3]
Osaka Med Ctr, Dept Med Genet, Osaka, Japan
[4]
Massachusetts Gen Hosp, Dept Med, Reprod Endocrine Unit, Harvard Reprod Endocrine Sci Ctr, Boston
[5]
Univ Massachusetts Med Sch, Dept Cell & Dev Biol, Worcester, MA 01655 USA
[6]
Massachusetts Gen Hosp, Ctr Human Genet Res, Mol Neurogenet Unit, Boston, MA 02114 USA
[7]
Univ Oklahoma, Hlth Sci Ctr, Dept Pediat, Oklahoma City, OK 73190 USA
[8]
Univ Hosp Bern, Inselspital, Dept Diagnost Intervent & Pediat Radiol, Bern, Switzerland
[9]
Univ Miami, Leonard M Miller Sch Med, DeWitt Daughtry Family Dept Surg, Miami, FL 33146 USA
[10]
Osped Maggiore Policlin, Fdn IRCCS Ca Granda, Med Genet Unit, Milan, Italy
[11]
Brigham & Womens Hosp, Dept Obstet Gynecol & Reprod Biol, 75 Francis St, Boston, MA 02115 USA
[12]
Inst Mexicano Seguro Social, Ctr Invest Biomed Occidente, Div Genet, Guadalajara, Mexico
[13]
Boston Childrens Hosp, Dept Oral & Maxillofacial Surg, Boston, MA USA
[14]
Harvard Med Sch, Dept Genet, Boston, MA 02115 USA
[15]
San Jose State Univ, Fdn Hosp Infantil, Bogota, Colombia
[16]
Univ Zurich, Clin Res Prior Program Rare Dis, Inst Med Genet, Schlieren, Switzerland
[17]
Tufts Med Ctr, Div Genet, Boston, MA 02111 USA
[18]
Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Fac Med & Human Sci,Inst
[19]
Childrens Hosp, Dept Diagnost Imaging, Zurich, Switzerland
[20]
Univ Hosp Saarland, Dept Ophthalmol, Homburg, Germany
[21]
Charite, Biol & Neurobiol, Berlin, Germany
[22]
ATOS Klin, Dept Plast & Aesthet Surg, Munich, Germany
[23]
Univ N Carolina, Div Pediat Endocrinol, Chapel Hill, NC 27514 USA
[24]
Univ Edinburgh, Western Gen Hosp, Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh, Midlothian
[25]
Gunma Univ, Grad Sch Med, Dept Otolaryngol Head & Neck Surg, Gunma, Japan
[26]
Univ Iowa, Carver Coll Med, Dept Pathol, Iowa City, IA 52242 USA
[27]
Harvard Med Sch, Boston, MA 02115 USA
[28]
Robert Debre Hosp, Dept Genet, Paris, France
[29]
Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
[30]
Massachusetts Gen Hosp, Ctr Human Genet Res, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA
[31]
South Glasgow Univ Hosp, West Scotland Genet Serv, Glasgow, Lanark, Scotland
[32]
Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki, Japan
[33]
Hokkaido Univ, Grad Sch Med, Dept Pediat, Sapporo, Hokkaido, Japan
[34]
Cedars Sinai Med Ctr, Dept Pediat, Los Angeles, CA 90048 USA
[35]
Acad Nacl Med Colombia, Bogota, Colombia
[36]
Univ Antwerp, Ctr Med Genet, Antwerp, Belgium
[37]
发布时间
2017-05-26
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Nature Genetics
Nature Genetics
238-248页
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