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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 A; Department of Internal Medicine, Division of Digestive and Liver Diseases, University of Texas Southwestern Medical Center, Dallas, TX, USA., Rogers C; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia., Touma MJ; Department of Internal Medicine, Division of Digestive and Liver Diseases, University of Texas Southwestern Medical Center, Dallas, TX, USA., El-Najjar Y; Department of Internal Medicine, Division of Digestive and Liver Diseases, University of Texas Southwestern Medical Center, Dallas, TX, USA., Colley A; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia., Boesch DJ; Roy J. Carver Department of Biochemistry, Biophysics & Molecular Biology, Iowa State University, Ames, IA, USA., Billadeau DD; Division of Oncology Research, Mayo Clinic College of Medicine, Rochester, MN, USA., Gecz J; Neurogenetics Research Program, School of Pediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia., Chen B; Roy J. Carver Department of Biochemistry, Biophysics & Molecular Biology, Iowa State University, Ames, IA, USA., Burstein E; Department of Internal Medicine, Division of Digestive and Liver Diseases, University of Texas Southwestern Medical Center, Dallas, TX, USA. ezra.burstein@utsouthwestern.edu.; Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, USA. ezra.burstein@utsouthwestern.edu.
Source: BMC medical genomics [BMC Med Genomics] 2025 May 30; Vol. 18 (1), pp. 98. Date of Electronic Publication: 2025 May 30.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Singla+A%22">Singla A</searchLink>; Department of Internal Medicine, Division of Digestive and Liver Diseases, University of Texas Southwestern Medical Center, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Rogers+C%22">Rogers C</searchLink>; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Touma+MJ%22">Touma MJ</searchLink>; Department of Internal Medicine, Division of Digestive and Liver Diseases, University of Texas Southwestern Medical Center, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22El-Najjar+Y%22">El-Najjar Y</searchLink>; Department of Internal Medicine, Division of Digestive and Liver Diseases, University of Texas Southwestern Medical Center, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Colley+A%22">Colley A</searchLink>; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Boesch+DJ%22">Boesch DJ</searchLink>; Roy J. Carver Department of Biochemistry, Biophysics & Molecular Biology, Iowa State University, Ames, IA, USA.<br /><searchLink fieldCode="AU" term="%22Billadeau+DD%22">Billadeau DD</searchLink>; Division of Oncology Research, Mayo Clinic College of Medicine, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Gecz+J%22">Gecz J</searchLink>; Neurogenetics Research Program, School of Pediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia.<br /><searchLink fieldCode="AU" term="%22Chen+B%22">Chen B</searchLink>; Roy J. Carver Department of Biochemistry, Biophysics & Molecular Biology, Iowa State University, Ames, IA, USA.<br /><searchLink fieldCode="AU" term="%22Burstein+E%22">Burstein E</searchLink>; Department of Internal Medicine, Division of Digestive and Liver Diseases, University of Texas Southwestern Medical Center, Dallas, TX, USA. ezra.burstein@utsouthwestern.edu.; Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX, USA. ezra.burstein@utsouthwestern.edu.
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  Data: <searchLink fieldCode="JN" term="%22101319628%22">BMC medical genomics</searchLink> [BMC Med Genomics] 2025 May 30; Vol. 18 (1), pp. 98. <i>Date of Electronic Publication: </i>2025 May 30.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101319628 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-8794 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217558794%22">17558794 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genomics <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s12920-025-02168-7
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              Text: 2025 May 30
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