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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2019
Gaiak:
Article
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak