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المؤلفون: Massadeh S; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia.; KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia.; Saudi Human Genome Satellite Laboratory at King Abdulaziz Medical City, King Abdulaziz City for Science and Technology (KACST), Ministry of National Guard Health Affairs (MNGHA), Riyadh 11481, Saudi Arabia., Alhabshan F; Department of Cardiac Sciences, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of the National Guard-Health Affairs, Riyadh 14611, Saudi Arabia., AlSudairi HN; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia., Alkwai S; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia.; KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia., Alsuwailm M; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia.; KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia., Kabbani MS; Department of Cardiac Sciences, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of the National Guard-Health Affairs, Riyadh 14611, Saudi Arabia., Chaikhouni F; Department of Cardiac Sciences, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of the National Guard-Health Affairs, Riyadh 14611, Saudi Arabia., Alaamery M; Developmental Medicine Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh 11481, Saudi Arabia.; KACST-BWH Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology (KACST), Riyadh 11442, Saudi Arabia.; Saudi Human Genome Satellite Laboratory at King Abdulaziz Medical City, King Abdulaziz City for Science and Technology (KACST), Ministry of National Guard Health Affairs (MNGHA), Riyadh 11481, Saudi Arabia.

المصدر: Genes [Genes (Basel)] 2022 Jan 27; Vol. 13 (2). Date of Electronic Publication: 2022 Jan 27.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Craniofacial Abnormalities*/genetics , Heart Defects, Congenital*/genetics , Osteochondrodysplasias*/congenital , Osteochondrodysplasias*/genetics, Adaptor Proteins, Signal Transducing/genetics ; Developmental Disabilities/genetics ; Humans ; Infant, Newborn ; Male ; Mutation ; Podosomes/metabolism ; Podosomes/pathology

SCR Disease Name: Ter Haar syndrome