7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B)

European Journal of Medical Genetics

Volumn 54, Issue 5, 2011, Pages

  Hofmann, Kristin ^a   Becker, Jutta ^b   Heller, Raoul ^b   Boute, Odile ^c   Andrieux, Joris ^c   Hoyer, Juliane ^a   Ekici, Arif B ^a   Reis, André ^a   Rauch, Anita ^d  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

DA2B; Deletion 8q21; Distal arthrogryposis; Molecular karyotyping

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; BIOINFORMATICS; CASE REPORT; CHILD; CHROMOSOME 8Q; CHROMOSOME DELETION; CLINICAL FEATURE; DISTAL ARTHROGRYPOSIS TYPE 2B; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; KARYOTYPING; MALE; MYH3 GENE; PHENOTYPE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TNNI2 GENE; TNNT3 GENE; TPM2 GENE; BIOLOGY; CHROMOSOME 8; GENETIC ASSOCIATION; GENETICS; MUTATION;

BRACHYCEPHALUS;

ARTHROGRYPOSIS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; COMPUTATIONAL BIOLOGY; GENETIC ASSOCIATION STUDIES; HUMANS; KARYOTYPING; MALE; MUTATION; PHENOTYPE;

EID: 79961128039     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.06.002     Document Type: Article

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