Browsing by Subject "Craniofacial microsomia"

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Damaging variants in FOXI3 cause microtia and craniofacial microsomia

Quiat, Daniel; Timberlake, Andrew T.; Curran, Justin J.; Cunningham, Michael L.; McDonough, Barbara; Artunduaga, Maria A.; De Palma, Steven R.; Duenas Roque, Milagros M.; Gorham, Joshua M.; Gustafson, Jonas A.; Hamdan, Usama; Hing, Anne V.; Hurtado Villa, Paula; Nicolau, Yamileth; Osorno, Gabriel; Pachajoa, Harry; Porras Hurtado, Gloria L.; Quintanilla Dieck, Lourdes; Serrano, Luis; Tumblin, Melissa; Zarante, Ignacio; Luquetti, Daniela V.; Eavey, Roland D.; Heike, Carrie L.; Seidman, Jonathan G.; Seidman, Christine E. (American College of Medical Genetics and Genomics, 2023-01)
Acceso abierto

Purpose: Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft ...