Paucity of skeletal manifestations in hispanic families with FBN1 mutations

European Journal of Medical Genetics

Volumn 53, Issue 2, 2010, Pages 80-84

  Villamizar, Carlos ^a   Regalado, Ellen S ^a   Fadulu, Van Tran ^a   Hasham, Sumera N ^a   Gupta, Prateek ^a   Willing, Marcia C ^c   Kuang, Shao Qing ^a   Guo, Dongchuan ^a   Muilenburg, Ann ^c   Yee, Richard W ^b   Fan, Yuxin ^d   Towbin, Jeffrey ^d   Coselli, Joseph S ^e   LeMaire, Scott A ^e   Milewicz, Dianna M ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF TEXAS   (United States)

^c UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e ST LUKE S EPISCOPAL HOSPITAL   (United States)

Author keywords

FBN1; Fibrillin 1; Hispanic; Marfan syndrome

Indexed keywords

FIBRILLIN 1;

ADULT; AORTA DISEASE; ARTICLE; BONE DISEASE; CARDIOVASCULAR DISEASE; CAUCASIAN; CLINICAL FEATURE; CONTROLLED STUDY; ECHOCARDIOGRAPHY; EXON; EYE DISEASE; EYE EXAMINATION; FAMILY; FEMALE; FRAMESHIFT MUTATION; HISPANIC; HUMAN; MARFAN SYNDROME; MISSENSE MUTATION; MUTATION; PHENOTYPE; SKELETON;

ADULT; CARDIOVASCULAR DISEASES; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MARFAN SYNDROME; MEXICO; MICROFILAMENT PROTEINS; MODELS, GENETIC; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE;

EID: 77950626788     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.11.001     Document Type: Article

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