Systematic phenotype and genotype characterization of Moebius syndrome

We did not identify a strong or unifying germline genetic etiology for MBS. Future studies may explore alternative causes, including environmental exposures, somatic variants, and/or complex inheritance patterns affecting brainstem and organ embryogenesis.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103437
Citations
1
Primary Topic
Pectus Deformity Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
2.01
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article

Systematic phenotype and genotype characterization of Moebius syndrome

Wai‐Man Chan, Ke Hao, Narisu Narisu, Sarah MacKinnon et al.
1 citations
Genetics in Medicine Open
Pectus Deformity Diagnosis and Treatment
2.01
article

Systematic phenotype and genotype characterization of Moebius syndrome

Wai‐Man Chan, Ke Hao, Narisu Narisu, Sarah MacKinnon, Carmen C. Brewer, Janet C. Rucker, Tingfen Yan, David G. Hunter, Caroline Andrews, John A. Butman, Ethylin Wang Jabs, Tanya Lehky, Darren T. Oystreck, Silvio Alessandro Di Gioia, Mary C. Whitman, Flavia M. Facio, Audrey Thurm, Irini Manoli, Carol Van Ryzin, Thomas P. Naidich, Mónica Erazo, Scott M. Paul, Bryn D. Webb, Elizabeth C. Engle, Andrea Lynne Gropman, Amy J. Swift, Sherin Shaaban, Julie A. Jurgens, Brenda J. Barry, Christopher Zalewski, Tamiesha Frempong, Carlo Pierpaoli, Lori L. Bonnycastle, Joseph Snow, Edmond J. FitzGibbon, Caroline D. Robson, Zhongyang Zhang, Camilo Toro, Janice S. Lee, Francis S. Collins, Peter S. Chines, Brian P. Brooks
article en
1 citations

Abstract

We did not identify a strong or unifying germline genetic etiology for MBS. Future studies may explore alternative causes, including environmental exposures, somatic variants, and/or complex inheritance patterns affecting brainstem and organ embryogenesis.

Genetics in Medicine OpenVol. 3
Broad Institute (US), Boston Children's Hospital (US), Dalhousie University (CA), National Institutes of Health (US), Children's National (US), Howard Hughes Medical Institute (US), University of Wisconsin–Madison (US), Harvard University (US), Regeneron (United States) (US), University of Utah (US), Izaak Walton Killam Health Centre (CA), National Institute of Biomedical Imaging and Bioengineering (US), National Institute of Dental and Craniofacial Research (US), National Human Genome Research Institute (US), National Institute of Neurological Disorders and Stroke (US), National Eye Institute (US), Mayo Clinic in Florida (US), Boston Children's Museum (US), National Institutes of Health Clinical Center (US), National Institute on Deafness and Other Communication Disorders (US), National Institute of Mental Health (US), National Institute of Mental Health (CZ), New York University (US), Icahn School of Medicine at Mount Sinai (US)
Openalex Percentile: Top 16%
Pectus Deformity Diagnosis and Treatment
2.01
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