Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

American Journal of Medical Genetics, Part A

Volumn 161, Issue 3, 2013, Pages 550-555

  Beck, Anita E ^a,b   Mcmillin, Margaret J ^a   Gildersleeve, Heidi I S ^a   Kezele, Phillip R ^a   Shively, Kathryn M ^a   Carey, John C ^c   Regnier, Michael ^d   Bamshad, Michael J ^a,b,e  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b SEATTLE CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d University of Washington   (United States)

^e UNIVERSITY OF WASHINGTON   (United States)

Author keywords

(All MeSH headings): arthrogryposis; Clubfoot; Congenital foot deformities; Congenital hand deformities; Congenital limb deformities; Congenital lower extremity deformities; Congenital upper extremity deformities; Congenital vertical talus; Contracture; Distal arthrogryposis; Distal arthrogryposis type 1; Distal arthrogryposis type 2B; Human MYH3 polypeptide; Human TNNI2 protein; Human TNNT3 protein; Human TPM2 protein; Muscle; Musculoskeletal abnormalities; Myosin heavy chains; Skeletal muscle; Troponin I; Troponin T

Indexed keywords

ADOLESCENT; ARTHROGRYPOSIS; ARTICLE; CHILD; CLINICAL FEATURE; DISEASE CLASSIFICATION; DISTAL ARTHROGRYPOSIS TYPE 1; DISTAL ARTHROGRYPOSIS TYPE 2B; GENE IDENTIFICATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; MUTATOR GENE; MYH3 GENE; PRIORITY JOURNAL; SCHOOL CHILD; TNNI2 GENE; TNNT3 GENE; TPM2 GENE;

ADOLESCENT; ARTHROGRYPOSIS; CHILD; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; HUMANS; MUTATION, MISSENSE; SEQUENCE DELETION; TROPOMYOSIN; TROPONIN I; TROPONIN T;

EID: 84874217146     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35809     Document Type: Article

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