An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations

Microtia is a congenital malformation that encompasses mild hypoplasia to complete loss of the external ear, or pinna. Although the contribution of genetic variation and environmental factors to microtia remains elusive, Amerindigenous populations have the highest reported incidence. Here, using bot...

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Detalles Bibliográficos
Autores principales: Quiat, Daniel, Kim, Seong Won, Zhang, Qi, Morton, Sarah U., Pereira, Alexandre C., DePalma, Steven R., Willcox, Jon A. L., McDonough, Barbara, DeLaughter, Daniel M., Gorham, Joshua M., Curran, Justin J., Tumblin, Melissa, Nicolau, Yamileth, Artunduaga, Maria A., Quintanilla-Dieck, Lourdes, Osorno, Gabriel, Serrano, Luis, Hamdan, Usama, Eavey, Roland D., Seidman, Christine E., Seidman, J. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9173816/
https://www.ncbi.nlm.nih.gov/pubmed/35584116
http://dx.doi.org/10.1073/pnas.2203928119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9173816/
https://www.ncbi.nlm.nih.gov/pubmed/35584116
http://dx.doi.org/10.1073/pnas.2203928119

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