POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Originalsprog | Engelsk |
---|---|
Tidsskrift | Clinical Genetics |
Vol/bind | 104 |
Udgave nummer | 2 |
Sider (fra-til) | 186-197 |
ISSN | 0009-9163 |
DOI | |
Status | Udgivet - 2023 |
Bibliografisk note
Funding Information:
The authors would like to thank the families for their participation. This study makes use of data generated by the DECIPHER community. A full list of centers who contributed to the generation of the data is available from https://deciphergenomics.org/about/stats and via email from contact@deciphergenomics.org . Funding for the DECIPHER project was provided by Wellcome. This study was also, in part, generated within the European Reference Network ITHACA (NBP). This work was in part supported by the Telethon Foundation, Telethon Undiagnosed Diseases Program (TUDP, GSP15001 to Nicola Brunetti‐Pierri). Siddharth Srivastava is funded by NIH‐NINDS (K23NS119666). Allan Bayat is funded by a BRIDGE—Translational Excellence Program grant funded by the Novo Nordisk Foundation, grant agreement number: NNF20SA0064340.
Publisher Copyright:
© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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