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by Burrage, Lindsay C and Reynolds, John J and Baratang, Nissan Vida and Phillips, John A and Phillips, Jennifer B and Wegner, Jeremy and McFarquhar, Ashley and Higgs, Martin R and Christiansen, Audrey E and Lanza, Denise G and Seavitt, John R and Jain, Mahim and Li, Xiaohui and Parry, David A and Raman, Vandana and Chitayat, David and Chinn, Ivan K and Bertuch, Alison A and Karaviti, Lefkothea and Schlesinger, Alan E and Earl, Dawn and Bamshad, Michael and Savarirayan, Ravi and Doddapaneni, Harsha and Muzny, Donna and Muzny, Donna M and Jhangiani, Shalini N and Eng, Christine M and Gibbs, Richard A and Bi, Weimin and Emrick, Lisa and Emrick, Lisa T and Rosenfeld, Jill A and Postlethwait, John H and Postlethwait, John and Westerfield, Monte and Dickinson, Mary E and Beaudet, Arthur L and Ranza, Emmanuelle and Huber, Celine and Cormier-Daire, Valérie and Shen, Wei and Mao, Rong and Heaney, Jason D and Orange, Jordan S and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and ... and Univ Washington Ctr Mendelian and Undiagnosed Dis Network and University of Washington Center for Mendelian Genomics and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 422 - 438
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a... 
TONSL | exome sequencing | DNA replication | SPONASTRIME dysplasia | DNA repair | skeletal dysplasia | RECOMBINATION | READ ALIGNMENT | MMS22L-TONSL COMPLEX | REPLICATION | CHROMATIN | STABILITY | MUTATION | GENETICS & HEREDITY | MMS22L-NFKBIL2 COMPLEX | FRAMEWORK | PREDICTION | Physiological aspects | Dysplasia | Genetic aspects | Research | Genetic variation | Risk factors
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American Journal of Roentgenology, ISSN 0361-803X, 03/2011, Volume 196, Issue 3, pp. 670 - 672
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Journal of Bone and Mineral Research, ISSN 0884-0431, 11/2013, Volume 28, Issue 11, pp. 2333 - 2337
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American Journal of Roentgenology, ISSN 0361-803X, 10/2001, Volume 177, Issue 4, pp. 828 - 828
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American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2015, Volume 167, Issue 6, pp. 1309 - 1314
Conradi-Huenermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While... 
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American Journal of Roentgenology, ISSN 0361-803X, 08/2008, Volume 191, Issue 2, pp. W62 - W66
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American Journal of Roentgenology, ISSN 0361-803X, 2001, Volume 176, Issue 5, pp. 1304 - 1304
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American Journal of Roentgenology, ISSN 0361-803X, 04/2003, Volume 180, Issue 4, pp. 1147 - 1153
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American Journal of Roentgenology, ISSN 0361-803X, 05/2005, Volume 184, Issue 5, pp. 1634 - 1639
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Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 2014, Volume 1, Issue 1, pp. 176 - 183
Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism caused by mutations in , which encodes a component of the dibasic... 
Lysinuric protein intolerance | Osteoporosis | SLC7A7 | Bone fractures
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American Journal of Roentgenology, ISSN 0361-803X, 2000, Volume 174, Issue 1, pp. 50 - 50
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