A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 5, 2012, Pages 989-995

  Yang, Jeong Hoon ^a   Han, Hyejin ^a   Jang, Shin Yi ^a   Moon, Ju Ryoung ^a   Sung, Kiick ^a   Chung, Tae Young ^a   Lee, Heung Jae ^a   Ki, Chang Seok ^a   Kim, Duk Kyung ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Fibrillin 1 gene; Ghent nosology; Marfan syndrome; Marfan like syndromes; Revised Ghent nosology

Indexed keywords

ADULT; AGED; AORTA DISSECTING ANEURYSM; AORTIC ALPHA ACTIN GENE; ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; FEMALE; FIBRILLIN 1 GENE; GENE IDENTIFICATION; HUMAN; INTERMETHOD COMPARISON; KOREA; LOEYS DIETZ SYNDROME; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; MUTATOR GENE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; SCORING SYSTEM; SEQUENCE ANALYSIS; THORACIC AORTA ANEURYSM; TRANSFORMING GROWTH FACTOR BETA RECEPTOR TYPE I GENE; TRANSFORMING GROWTH FACTOR BETA RECEPTOR TYPE II GENE;

ADULT; AORTIC ANEURYSM; ECTOPIA LENTIS; HUMANS; KOREA; LOEYS-DIETZ SYNDROME; MARFAN SYNDROME; MICROFILAMENT PROTEINS; PRACTICE GUIDELINES AS TOPIC; YOUNG ADULT;

EID: 84859962538     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34392     Document Type: Article

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