Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone

American Journal of Medical Genetics

Volumn 98, Issue 3, 2001, Pages 256-262

  Galjaard, R J H ^a,d   Van Der Ham, L I ^a   Posch, N A S ^b   Dijkstra, P F ^c   Oostra, B A ^c   Hovius, S E R ^c   Timmenga, E J F ^c   Sonneveld, G J ^c   Hoogeboom, A J M ^c   Heutink, P ^c  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b JAN VAN BREEMEN INSTITUTE   (Netherlands)

^c Jan Van Breemen Institute ^*  (Netherlands)

^d ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Brachydactyly type C; CDMP1 mutation; Clinical heterogeneity; Genetic heterogeneity

Indexed keywords

GENE PRODUCT; GROWTH DIFFERENTIATION FACTOR 5; MORPHOGEN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRACHYDACTYLY; CHROMOSOME 12Q; CHROMOSOME 20Q; CHROMOSOME MAP; CLINICAL ARTICLE; DISEASE CLASSIFICATION; DNA MODIFICATION; ENVIRONMENTAL FACTOR; FAMILIAL DISEASE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; ALLELES; BASE SEQUENCE; BONE MORPHOGENETIC PROTEINS; CHILD; CHROMOSOMES, HUMAN, PAIR 12; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENETIC HETEROGENEITY; GENOTYPE; GROWTH SUBSTANCES; HAND DEFORMITIES, CONGENITAL; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; PEDIGREE; SEQUENCE DELETION;

EID: 0035931431     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010122)98:3<256::AID-AJMG1088>3.0.CO;2-D     Document Type: Article

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