title: Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome).
authors.affiliation: 1 Department of Medical Biochemistry, School of Medicine, İstanbul Kemerburgaz University , Istanbul, Turkey .
authors.forename: Nezih
authors.initials: N
authors.lastname: Hekim
authors.affiliation: 2 Kyrgyzstan Ministry of Health , Bishkek, Kyrgyzstan .
authors.forename: Talantbek
authors.initials: T
authors.lastname: Batyraliev
authors.affiliation: 3 Centogene AG , Rostock, Germany .
authors.forename: Daniel
authors.initials: D
authors.lastname: Trujillano
authors.affiliation: 4 Global Health Genomics, School of Medical Sciences and Health, Edith Cowan University , Perth, Australia .
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.affiliation: 5 Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, Institute of Infectious Disease and Molecular Medicine, University of Cape Town , Cape Town, South Africa .
authors.forename: Collet
authors.initials: C
authors.lastname: Dandara
authors.affiliation: 6 Department of Cardiology, School of Medicine, SANKO University , Gaziantep, Turkey .
authors.forename: Zarema
authors.initials: Z
authors.lastname: Karben
authors.affiliation: 7 Department of Medical Biochemistry, School of Medicine, SANKO University , Gaziantep, Turkey .
authors.forename: Eyüp İlker
authors.initials: Eİ
authors.lastname: Saygılı
authors.affiliation: 8 Department of Medical Biology and Genetics, School of Medicine, SANKO University , Gaziantep, Turkey .
authors.forename: Zafer
authors.initials: Z
authors.lastname: Çetin
authors.affiliation: 8 Department of Medical Biology and Genetics, School of Medicine, SANKO University , Gaziantep, Turkey .
authors.forename: Deniz
authors.initials: D
authors.lastname: Mıhcıoğlu
authors.affiliation: 6 Department of Cardiology, School of Medicine, SANKO University , Gaziantep, Turkey .
authors.forename: Serdar
authors.initials: S
authors.lastname: Türkmen
authors.affiliation: 9 Department of Radiology, School of Medicine, SANKO University , Gaziantep, Turkey .
authors.forename: Mehmet Ali
authors.initials: MA
authors.lastname: İkidağ
authors.affiliation: 9 Department of Radiology, School of Medicine, SANKO University , Gaziantep, Turkey .
authors.forename: Mehmet Ali
authors.initials: MA
authors.lastname: Cüce
authors.affiliation: 3 Centogene AG , Rostock, Germany .
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
mesh_terms: D000328:Adult; D063748:Bland White Garland Syndrome / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D051191:Plakophilins / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics*; D014421:Turkey; D000073359:Exome Sequencing
chemical_list: C505032:CFTR protein, human; C105373:MEN1 protein, human; C495337:PKP2 protein, human; D051191:Plakophilins; D011518:Proto-Oncogene Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator