Systematic phenotype and genotype characterization of Moebius syndrome

Systematic phenotype and genotype characterization of Moebius syndrome

Purpose: To explore the phenotypic spectrum and genetic etiologies of Moebius Syndrome (MBS), a rare neurological disorder defined by congenital, nonprogressive facial weakness and limitations in ocular abduction. Methods: We applied strict diagnostic criteria and conducted clinical phenotyping of 1...

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Main Authors: Bryn D. Webb, Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang, Brenda J. Barry, Carol Van Ryzin, Lori L. Bonnycastle, Wai-Man Chan, Tingfen Yan, Silvio Alessandro Di Gioia, Amy J. Swift, Sarah E. MacKinnon, Darren T. Oystreck, Janet C. Rucker, Tamiesha Frempong, Mary C. Whitman, Edmond J. FitzGibbon, Janice S. Lee, Ke Hao, Caroline Andrews, Monica Erazo, Flavia M. Facio, Sherin Shaaban, Thomas P. Naidich, Peter S. Chines, Tanya J. Lehky, Camilo Toro, Andrea L. Gropman, John A. Butman, Christopher K. Zalewski, Carmen C. Brewer, Audrey Thurm, Joseph Snow, Scott M. Paul, Brian P. Brooks, Carlo Pierpaoli, Caroline D. Robson, David G. Hunter, Francis S. Collins, Ethylin Wang Jabs, Elizabeth C. Engle, Irini Manoli
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Subjects:
Congenital facial weakness
Cranial nerve
Exome sequencing
Genome sequencing
Moebius syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425014761
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