Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 154, Issue 2, 2010, Pages 299-306

  Morris, Colleen A ^a   Pani, Ariel M ^b   Mervis, Carolyn B ^c   Rios, Cecilia M ^d   Kistler, Doris J ^c   Gregg, Ronald G ^c  

^a University of Nevada Medical School   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c UNIVERSITY OF LOUISVILLE   (United States)

^d UNIVERSITY OF NEVADA SCHOOL OF MEDICINE   (United States)

Author keywords

Alpha 1 antitrypsin; Elastic fibers; Elastin; Fibrillin 1; Joint dislocation; Scoliosis; SERPINA1; Supravalvar aortic stenosis; Williams syndrome

Indexed keywords

ALPHA 1 ANTITRYPSIN; NEUROSERPIN;

ALPHA 1 ANTITRYPSIN DEFICIENCY; AORTA SUPRAVALVULAR STENOSIS; ARTICLE; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INGUINAL HERNIA; JOINT DISLOCATION; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; WILLIAMS BEUREN SYNDROME;

ALLELES; ALPHA 1-ANTITRYPSIN DEFICIENCY; AORTIC STENOSIS, SUPRAVALVULAR; CHILD; DISLOCATIONS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; JOINTS; MALE; SCOLIOSIS; SPINE; WILLIAMS SYNDROME;

EID: 77951521252     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30265     Document Type: Article

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