Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort

Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant high hyperopia. While six genes have been implicated in this hereditary condition (MFRP, PRSS56, MYRF, TMEM98, CRB1,VMD2/BEST1), the relative contribution of these to nanophthalmos or to less severe high hyp...

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Detalles Bibliográficos
Autores principales: Prasov, Lev, Guan, Bin, Ullah, Ehsan, Archer, Steven M., Ayres, Bernadete M., Besirli, Cagri G., Wiinikka-Buesser, Laurel, Comer, Grant M., Del Monte, Monte A., Elner, Susan G., Garnai, Sarah J., Huryn, Laryssa A., Johnson, Kayla, Kamat, Shivani S., Lieu, Philip, Mian, Shahzad I., Rygiel, Christine A., Serpen, Jasmine Y., Pawar, Hemant S., Brooks, Brian P., Moroi, Sayoko E., Richards, Julia E., Hufnagel, Robert B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7672112/
https://www.ncbi.nlm.nih.gov/pubmed/33203948
http://dx.doi.org/10.1038/s41598-020-76725-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7672112/
https://www.ncbi.nlm.nih.gov/pubmed/33203948
http://dx.doi.org/10.1038/s41598-020-76725-8

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