Grebe dysplasia and the spectrum of CDMP1 mutations

Pediatric Pathology and Molecular Medicine

Volumn 22, Issue 1, 2003, Pages 77-85

  Stelzer, Christian ^a   Winterpacht, Andreas ^b   Spranger, Jürgen ^a   Zabel, Bernhard ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Brachydactyly type C; CDMP1; Grebe dysplasia; Short limb dwarfism

Indexed keywords

BONE MORPHOGENETIC PROTEIN;

ARTICLE; BONE DEVELOPMENT; BONE DYSPLASIA; BRACHYDACTYLY; CASE REPORT; CDMP1 GENE; CHONDRODYSPLASIA; CONSANGUINEOUS MARRIAGE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GREBE DYSPLASIA; HETEROZYGOTE; HUMAN; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL;

BASE SEQUENCE; BONE MORPHOGENETIC PROTEINS; CHILD, PRESCHOOL; CODON, NONSENSE; DNA, COMPLEMENTARY; FRAMESHIFT MUTATION; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MOLECULAR SEQUENCE DATA; OSTEOCHONDRODYSPLASIAS; POLYMERASE CHAIN REACTION;

EID: 12244251384     PISSN: 15227952     EISSN: None     Source Type: Journal    
DOI: 10.1080/15227950307698     Document Type: Article

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