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

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...

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Main Authors:	Khan, Yasir Naseem, Mustafa, Imad Al-Deen, Othman, Noordin, Mohd Radzuan, Hazulin, Basit, Sulman
Format:	Article
Language:	en en
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
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