CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.

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Title: CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.
Authors: Singla, Amika1 (AUTHOR), Rogers, Carolyn2 (AUTHOR), Touma, Mary-Joe1 (AUTHOR), El-Najjar, Yassin1 (AUTHOR), Colley, Alison2 (AUTHOR), Boesch, Daniel J.3 (AUTHOR), Billadeau, Daniel D.4 (AUTHOR), Gecz, Jozef5 (AUTHOR), Chen, Baoyu3 (AUTHOR), Burstein, Ezra1,6 (AUTHOR) ezra.burstein@utsouthwestern.edu
Source: BMC Medical Genomics. 5/30/2025, Vol. 18 Issue 1, p1-11. 11p.
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  Data: CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.
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  Data: <searchLink fieldCode="AR" term="%22Singla%2C+Amika%22">Singla, Amika</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rogers%2C+Carolyn%22">Rogers, Carolyn</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Touma%2C+Mary-Joe%22">Touma, Mary-Joe</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22El-Najjar%2C+Yassin%22">El-Najjar, Yassin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Colley%2C+Alison%22">Colley, Alison</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Boesch%2C+Daniel+J%2E%22">Boesch, Daniel J.</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Billadeau%2C+Daniel+D%2E%22">Billadeau, Daniel D.</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gecz%2C+Jozef%22">Gecz, Jozef</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chen%2C+Baoyu%22">Chen, Baoyu</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Burstein%2C+Ezra%22">Burstein, Ezra</searchLink><relatesTo>1,6</relatesTo> (AUTHOR)<i> ezra.burstein@utsouthwestern.edu</i>
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  Data: <searchLink fieldCode="JN" term="%22BMC+Medical+Genomics%22">BMC Medical Genomics</searchLink>. 5/30/2025, Vol. 18 Issue 1, p1-11. 11p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=185594332
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        Value: 10.1186/s12920-025-02168-7
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              Text: 5/30/2025
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