Article
An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations.
Proceedings of the National Academy of Sciences of the United States of America - 24 May 2022
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
Abstract excerpt
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 both transmission disequilibrium tests and association studies in microtia trios (parents and affected child) and...
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