Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

IMPORTANCE: Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear. The broad phenotypic spectrum of secondary glaucoma, particularly in individuals with variants in FOXC1 or PITX2 genes associated with Axenf...

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Vydáno v:JAMA Ophthalmol
Hlavní autoři: Siggs, Owen M., Souzeau, Emmanuelle, Pasutto, Francesca, Dubowsky, Andrew, Smith, James E. H., Taranath, Deepa, Pater, John, Rait, Julian L., Narita, Andrew, Mauri, Lucia, Del Longo, Alessandra, Reis, André, Chappell, Angela, Kearns, Lisa S., Staffieri, Sandra E., Elder, James E., Ruddle, Jonathan B., Hewitt, Alex W., Burdon, Kathryn P., Mackey, David A., Craig, Jamie E.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Medical Association 2019
Témata:
Original Investigation
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6459212/
https://ncbi.nlm.nih.gov/pubmed/30653210
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2018.5646
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