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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Crossref DOI link: https://doi.org/10.1007/s00439-021-02379-9

Published Online: 2021-10-15

Published Print: 2021-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Whitman, Mary C. https://orcid.org/0000-0001-6297-7499
Barry, Brenda J. https://orcid.org/0000-0003-4358-8126
Robson, Caroline D. https://orcid.org/0000-0001-5592-249X
Facio, Flavia M. https://orcid.org/0000-0002-7472-471X
Van Ryzin, Carol

Chan, Wai-Man https://orcid.org/0000-0002-2888-4739
Lehky, Tanya J. https://orcid.org/0000-0001-6421-505X
Thurm, Audrey https://orcid.org/0000-0002-0489-9485
Zalewski, Christopher https://orcid.org/0000-0002-9196-0589
King, Kelly A.

Brewer, Carmen

Almpani, Konstantinia

Lee, Janice S.

Delaney, Angela https://orcid.org/0000-0002-0632-6365
FitzGibbon, Edmond J. https://orcid.org/0000-0001-6855-7540
Lee, Paul R.

Toro, Camilo https://orcid.org/0000-0002-3917-9031
Paul, Scott M. https://orcid.org/0000-0003-1274-6670
Abdul-Rahman, Omar A.

Webb, Bryn D.

Jabs, Ethylin Wang https://orcid.org/0000-0001-8983-5466
Moller, Hans Ulrik

Larsen, Dorte Ancher

Antony, Jayne H.

Troedson, Christopher

Ma, Alan https://orcid.org/0000-0002-9293-4753
Ragnhild, Glad https://orcid.org/0000-0002-8067-4616
Wirgenes, Katrine V. https://orcid.org/0000-0002-0649-7850
Tham, Emma https://orcid.org/0000-0001-6079-164X
Kvarnung, Malin

Maarup, Timothy James https://orcid.org/0000-0001-9268-6246
MacKinnon, Sarah

Hunter, David G. https://orcid.org/0000-0002-4587-4794
Collins, Francis S. https://orcid.org/0000-0002-1023-7410
Manoli, Irini https://orcid.org/0000-0003-1543-2941
Engle, Elizabeth C. https://orcid.org/0000-0001-8194-7738
Funding

Funding for this research was provided by:

National Eye Institute (5K08EY027850, 5K12EY016335)

National Institutes of Health (U01HD079068, ZIA DE000746-06, ZIA HD008919, ZIA HG200389-08, ZIA HG200389-08, NIH Director’s Common Fund to the NIH Undiagnosed Diseases Program, U01HD079068, U01HD079068)

Moebius Syndrome Foundation

National Institute on Deafness and Other Communication Disorders (NIDCD Intramural Research Program, NIDCD Intramural Research Program, NIDCD Intramural Research Program)

Region Stockholm ALF (SLL 500306)

Children's Hospital Ophthalmology Foundation

National Institute of Child Health and Human Development (1U54HD090255)

Howard Hughes Medical Institute
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Version of Record valid from 2021-10-15
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Article History

Received: 6 August 2021

Accepted: 25 September 2021

First Online: 15 October 2021

Declarations

:

: None of the authors have any relevant conflict of interest.

: The Institutional Review Boards at Boston Children’s Hospital (Boston, MA) and National Human Genome Research Institute, National Institutes of Health (Bethesda, MD) approved the study. Individual-level data were de-identified. Sharing of medical record information between collaborating sites was covered by an inter-institute collaborative reliance agreement. Studies were performed in compliance with US 45.CFR.46 and the Declaration of Helsinki.

: Informed consent was obtained from each participant or legal guardian.

: Specific consent for the publication of identifiable photographs was also obtained where indicated.

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