Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. Scoliosis, coxa vara, childhood cataracts, short dental roo...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Burrage, Lindsay C., Reynolds, John J., Baratang, Nissan Vida, Phillips, Jennifer B., Wegner, Jeremy, McFarquhar, Ashley, Higgs, Martin R., Christiansen, Audrey E., Lanza, Denise G., Seavitt, John R., Jain, Mahim, Li, Xiaohui, Parry, David A., Raman, Vandana, Chitayat, David, Chinn, Ivan K., Bertuch, Alison A., Karaviti, Lefkothea, Schlesinger, Alan E., Earl, Dawn, Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Jhangiani, Shalini N., Eng, Christine M., Gibbs, Richard A., Bi, Weimin, Emrick, Lisa, Rosenfeld, Jill A., Postlethwait, John, Westerfield, Monte, Dickinson, Mary E., Beaudet, Arthur L., Ranza, Emmanuelle, Huber, Celine, Cormier-Daire, Valérie, Shen, Wei, Mao, Rong, Heaney, Jason D., Orange, Jordan S., Bertola, Débora, Yamamoto, Guilherme L., Baratela, Wagner A.R., Butler, Merlin G., Ali, Asim, Adeli, Mehdi, Cohn, Daniel H., Krakow, Deborah, Jackson, Andrew P., Lees, Melissa, Offiah, Amaka C., Carlston, Colleen M., Carey, John C., Stewart, Grant S., Bacino, Carlos A., Campeau, Philippe M., Lee, Brendan
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6408318/
https://ncbi.nlm.nih.gov/pubmed/30773277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.01.007
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