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WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins

Published Online: 2021-10-12

Published Print: 2021-12

Authors

Sorokina, Elena A.

Reis, Linda M.

Thompson, Samuel

Agre, Katherine

Babovic-Vuksanovic, Dusica

Ellingson, Marissa S.

Hasadsri, Linda

van Bever, Yolande

Semina, Elena V. https://orcid.org/0000-0003-0531-3586
Funding

Funding for this research was provided by:

National Eye Institute (R01EY025718)

National Institute of Child Health and Human Development (R21HD099701)
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Text and Data Mining valid from 2021-10-12

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Article History

Received: 12 August 2021

Accepted: 5 October 2021

First Online: 12 October 2021

Declarations

:

: The authors have no conflicts of interest to disclose.

: There are no other data associated with this manuscript. <i>WDR37</i> genetic variants have been submitted to ClinVar, accession numbers SCV001911449–SCV001911451.

: Not applicable.

: This study was approved by the Institutional Review Boards of the Children’s Hospital of Wisconsin.

: Written informed consent was obtained for research analysis.

: Consent to publish was obtained from all participants and/or legal guardians; no identifying information is included in this manuscript.

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