Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg.
Medical Genetics Unit, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Arda
http://orcid.org/0000-0002-3528-9495
A
Cetinkaya
Medical Genetics Unit, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Ali
A
Karaman
Medical Genetics Unit, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Mehmet Burak
MB
Mutlu
Pediatric Cardiology Unit, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Taner
T
Yavuz
D000293:Adolescent; D019943:Amino Acid Substitution; D002648:Child; D004252:DNA Mutational Analysis; D004452:Echocardiography; D005190:Family; D005260:Female; D000071838:Fibrillin-1 / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D054392:Adipokines
D000071838:Fibrillin-1; C000605722:FBN1 protein, human; D054392:Adipokines