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.
Authors
- Wai‐Man Chan (ORCID: https://orcid.org/0000-0002-2888-4739)
- Ke Hao (ORCID: https://orcid.org/0000-0002-1815-9197)
- Narisu Narisu (ORCID: https://orcid.org/0000-0002-8483-1156)
- Sarah MacKinnon
- Carmen C. Brewer (ORCID: https://orcid.org/0000-0003-1462-049X)
- Janet C. Rucker (ORCID: https://orcid.org/0000-0002-0397-0999)
- Tingfen Yan (ORCID: https://orcid.org/0000-0003-4062-2886)
- David G. Hunter (ORCID: https://orcid.org/0000-0002-4587-4794)
- Caroline Andrews (ORCID: https://orcid.org/0000-0001-5818-4365)
- John A. Butman (ORCID: https://orcid.org/0000-0002-1547-9195)
- Ethylin Wang Jabs (ORCID: https://orcid.org/0000-0001-8983-5466)
- Tanya Lehky (ORCID: https://orcid.org/0000-0001-6421-505X)
- Darren T. Oystreck
- Silvio Alessandro Di Gioia (ORCID: https://orcid.org/0000-0002-7235-5682)
- Mary C. Whitman (ORCID: https://orcid.org/0000-0001-6297-7499)
- Flavia M. Facio (ORCID: https://orcid.org/0000-0002-7472-471X)
- Audrey Thurm (ORCID: https://orcid.org/0000-0002-0489-9485)
- Irini Manoli (ORCID: https://orcid.org/0000-0003-1543-2941)
- Carol Van Ryzin
- Thomas P. Naidich (ORCID: https://orcid.org/0000-0003-2304-7007)
- Mónica Erazo
- Scott M. Paul (ORCID: https://orcid.org/0000-0003-1274-6670)
- Bryn D. Webb (ORCID: https://orcid.org/0000-0001-6174-4677)
- Elizabeth C. Engle (ORCID: https://orcid.org/0000-0001-8194-7738)
- Andrea Lynne Gropman (ORCID: https://orcid.org/0000-0002-2106-6776)
- Amy J. Swift
- Sherin Shaaban
- Julie A. Jurgens (ORCID: https://orcid.org/0000-0003-4822-9384)
- Brenda J. Barry (ORCID: https://orcid.org/0000-0003-4358-8126)
- Christopher Zalewski (ORCID: https://orcid.org/0000-0002-9196-0589)
- Tamiesha Frempong
- Carlo Pierpaoli (ORCID: https://orcid.org/0000-0001-8558-4428)
- Lori L. Bonnycastle (ORCID: https://orcid.org/0000-0003-0663-3944)
- Joseph Snow (ORCID: https://orcid.org/0000-0002-3015-1171)
- Edmond J. FitzGibbon (ORCID: https://orcid.org/0000-0001-6855-7540)
- Caroline D. Robson (ORCID: https://orcid.org/0000-0001-5592-249X)
- Zhongyang Zhang (ORCID: https://orcid.org/0000-0002-2521-3884)
- Camilo Toro (ORCID: https://orcid.org/0000-0001-7139-0518)
- Janice S. Lee (ORCID: https://orcid.org/0000-0001-5164-5958)
- Francis S. Collins
- Peter S. Chines
- Brian P. Brooks
Institutions
- 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)
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