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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Vydáno v:Am J Hum Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2019
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On-line přístup: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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