Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family

• Main Authors: Khan, Yasir Naseem, Mustafa, Imad Al-Deen, Othman, Noordin, Mohd Radzuan, Hazulin, Basit, Sulman
• Format: Article
• Language: English; English
• Published: Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences 2024
• Subjects: QM Human anatomy; R Medicine (General); RJ Pediatrics; RJ251 Newborn infants. Neonatology; RJ254 Disease and abnormalities; RJ58 Clinical cases; RJ59 Infant and neonatal morbidity and mortality; RZ Other systems of medicine
• Online Access: http://irep.iium.edu.my/113376/1/113376_Whole%20exome%20sequencing%20enables%20the%20correct%20diagnosis.pdf; http://irep.iium.edu.my/113376/7/113376_Whole%20exome%20sequencing%20enables%20the%20correct%20diagnosis_Scopus.pdf; http://irep.iium.edu.my/113376/; https://www.scopus.com/record/display.uri?eid=2-s2.0-85195077029&origin=resultslist&sort=plf-f&src=s&sid=1fb5d8b65b47945bb770fc6c2ac316ed&sot=b&sdt=b&s=TITLE-ABS-KEY%28Whole+exome+sequencing+enables+the+correct+diagnosis+of+Frank%E2%80%93Ter+Haar+syndrome+in+a+Saudi+family%29&sl=112&sessionSearchId=1fb5d8b65b47945bb770fc6c2ac316ed&relpos=0

Frank–Ter Haar syndrome (FTHS) is a rare genetic hereditary autosomal recessive disorder characterized by defective malformation of cardiovascular, craniofacial, and skeletal system. Mutations in the SH3PXD2B gene are a common cause in the development of FTHS. We recruited a family with two affected...