Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia

Frontiers in Pediatrics

Francisco J. Guzmán-Vega¹  Kelly J. Cardona-Londoño¹  Reshmi Ramakrishnan¹  Stefan T. Arold²  Ahmed Basudan³  Nouran Adly⁴  Hebatallah Ali⁴  Ghaida Ali⁵  Omar Barasain⁶  Ikhlass Altweijri⁷  Taghreed R. Alhumsi⁸  Muhammed A. Bakhrebah⁹  Malak Alghamdi^1,10  Waleed H. Alkhamis^1,11 

[1] Biological and Environmental Science and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia;Biological and Environmental Science and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia;Center de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France;Chair of Medical and Molecular Genetics, Department of Clinical Laboratory Sciences, King Saud University, Riyadh, Saudi Arabia;College of Medicine Research Centre, College of Medicine, King Saud University, Riyadh, Saudi Arabia;College of Medicine, Imam Muhammad Ibn Saud University, Riyadh, Saudi Arabia;College of Medicine, King Saud University, Riyadh, Saudi Arabia;Department of Neurosurgery, King Saud University Medical City, Riyadh, Saudi Arabia;Department of Plastic Surgery, King Saud University Medical City, Riyadh, Saudi Arabia;Life Science and Environment Research Institute, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia;Medical Genetic Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia;Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia;Obstetrics and Gynecology, King Saud University Medical City, Riyadh, Saudi Arabia;

关键词: craniosynostosis;    trigonocephaly;    TCF12;    exome sequencing;    FGFR2;    ALPL;    TWIST1;   

DOI  :  10.3389/fped.2021.582816

来源: Frontiers

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