First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.
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| Title: | First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations. |
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| Authors: | Thomas MM; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt., Ashaat EA; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt., Otaify GA; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt., Ismail S; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt., Essawi ML; Human Genetics and Genome Research Division, Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt., Abdel-Hamid MS; Human Genetics and Genome Research Division, Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt., Hassan HA; Human Genetics and Genome Research Division, Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt., Alsaiedi SA; Pediatric Department, Cairo University, Cairo, Egypt., Aglan M; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt., El Ruby MO; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt., Temtamy S; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt. |
| Source: | Molecular syndromology [Mol Syndromol] 2021 Aug; Vol. 12 (5), pp. 279-288. Date of Electronic Publication: 2021 Jul 22. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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