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. |
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| 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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| ISSN: | 1755-8794 |
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| DOI: | 10.1186/s12920-025-02168-7 |
