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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.
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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  Data: First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.
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  Data: <searchLink fieldCode="AU" term="%22Thomas+MM%22">Thomas MM</searchLink>; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Ashaat+EA%22">Ashaat EA</searchLink>; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Otaify+GA%22">Otaify GA</searchLink>; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Ismail+S%22">Ismail S</searchLink>; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Essawi+ML%22">Essawi ML</searchLink>; Human Genetics and Genome Research Division, Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdel-Hamid+MS%22">Abdel-Hamid MS</searchLink>; Human Genetics and Genome Research Division, Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Hassan+HA%22">Hassan HA</searchLink>; Human Genetics and Genome Research Division, Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Alsaiedi+SA%22">Alsaiedi SA</searchLink>; Pediatric Department, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Aglan+M%22">Aglan M</searchLink>; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22El+Ruby+MO%22">El Ruby MO</searchLink>; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Temtamy+S%22">Temtamy S</searchLink>; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
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  Data: <searchLink fieldCode="JN" term="%22101525192%22">Molecular syndromology</searchLink> [Mol Syndromol] 2021 Aug; Vol. 12 (5), pp. 279-288. <i>Date of Electronic Publication: </i>2021 Jul 22.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22S%2E+Karger%22">S. Karger </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101525192 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>1661-8769 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216618769%22">16618769 </searchLink><i>NLM ISO Abbreviation: </i>Mol Syndromol <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1159/000516607
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        Text: English
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      – TitleFull: First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.
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              Text: 2021 Aug
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