Damaging variants in FOXI3 cause microtia and craniofacial microsomia
2022; Elsevier BV; Volume: 25; Issue: 1 Linguagem: Inglês
10.1016/j.gim.2022.09.005
ISSN1530-0366
AutoresDaniel Quiat, Andrew T. Timberlake, Justin J. Curran, Michael L. Cunningham, Barbara McDonough, Maria A. Artunduaga, Steven R. DePalma, Milagros Dueñas, Joshua M. Gorham, Jonas A. Gustafson, Usama S. Hamdan, Anne Hing, Paula Hurtado‐Villa, Yamileth Nicolau, Gabriel Osorno, Harry Pachajoa, Gloria Liliana Porras-Hurtado, Lourdes Quintanilla‐Dieck, Luís Serrano, Melissa Tumblin, Ignacio Zarante, Daniela V. Luquetti, Roland D. Eavey, Carrie L. Heike, Jonathan G. Seidman, Christine E. Seidman,
Tópico(s)Craniofacial Disorders and Treatments
ResumoCraniofacial 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 tissue, and/or facial nerve. The genetic causes of CFM remain largely unknown.
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