换一批Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling
作者：
Le, Thuy-Linh [1]
;
Sribudiani, Yunia [2]
;
Dong, Xiaomin [3]
;
Huber, Celine [4]
;
Kois, Chelsea [5]
;
Baujat, Genevieve [6]
;
Gordon, Christopher T. [7]
;
Mayne, Valerie [8]
;
Galmiche, Louise [9]
;
Serre, Valerie [10]
;
Goudin, Nicolas [11]
;
Zarhrate, Mohammed [12]
;
Bole-Feysot, Christine [13]
;
Masson, Cecile [14]
;
Nitschke, Patrick [15]
;
Verheijen, Frans W. [16]
;
Pais, Lynn [17]
;
Pelet, Anna ;
Sadedin, Simon ;
Pugh, John A. ;
Shur, Natasha ;
White, Susan M. ;
El Chehadeh, Salima ;
Christodoulou, John ;
Cormier-Daire, Valerie ;
Hofstra, R. M. W. ;
Lyonnet, Stanislas ;
Tan, Tiong Yang ;
Attie-Bitach, Tania ;
Kerstjens-Frederikse, Wilhelmina S. ;
Amiel, Jeanne ;
Thomas, Sophie
作者单位：
Royal Childrens Hosp, Dept Med Imaging, Melbourne, Vic 3052, Australia
[1]
Albany Med Ctr, 43 New Scotland Ave, Albany, NY 12208 USA
[2]
Univ Paris, Imagine Inst, Cell Imaging, INSERM,UMR 1163, F-75015 Paris, France
[3]
Hop Necker Enfants Malad, Assistance Publ Hop Paris, Federat Genet, F-75015 Paris, France
[4]
Univ Med Ctr Groningen, Dept Genet, Hanzepl 1, NL-9713 GZ Groningen, Netherlands
[5]
Univ Paris, Imagine Inst, Lab Mol & Physiopathol Bases Osteochondrodysplasi, INSERM,UMR 1163, F
[6]
Univ Melbourne, Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic 3052
[7]
Broad Inst MIT & Harvard, Ctr Mendelian Genom, 415 Main St, Cambridge, MA 02142 USA
[8]
Royal Childrens Hosp, Murdoch Childrens Res Inst, Brain & Mitochondrial Res Grp, 50 Flemington Rd
[9]
Hop Necker Enfants Malad, Assistance Publ Hop Paris, Dept Pathol, F-75015 Paris, France
[10]
Univ Paris, Imagine Inst, Lab Embryol & Genet Malformat, INSERM,UMR 1163, F-75015 Paris, France
[11]
Erasmus MC, Dept Clin Genet, NL-3015 GD Rotterdam, Netherlands
[12]
Univ Paris, Struct Federat Rech Necker, Imagine Inst, Genom Platform,INSERM,UMR 1163, F-75015 Paris
[13]
Univ Paris, Inst Jacques Monod, UMR7592, CNRS, 15 Rue Helene Brion, F-75013 Paris, France
[14]
Univ Paris, Imagine Inst, Bioinformat Platform, INSERM,UMR 1163, F-75015 Paris, France
[15]
Hop Hautepierre, Serv Genet Med, F-67098 Strasbourg, France
[16]
Childrens Natl, 111 Michigan Ave NW, Washington, DC 20010 USA
[17]
发布时间
2021-07-24
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The American Journal of Human Genetics
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