Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

American Journal of Medical Genetics

Volumn 138 A, Issue 4, 2005, Pages 379-383

  Szczaluba, K ^a   Hubert, K ^b   Obersztyn, E ^a   Zabel, B ^b   Mazurczak, T ^a   Kozlowski, K ^c  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

Acromesomelic dysplasias; Du Pan; Grebe; Hunter Thompson

Indexed keywords

GENE PRODUCT; PROTEIN CDMP1; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; BONE RADIOGRAPHY; CAUCASIAN; CDMP1 GENE; CLINICAL FEATURE; DU PAN SYNDROME; FEMALE; FINGER MALFORMATION; FOOT MALFORMATION; GENE CLUSTER; GENE IDENTIFICATION; GENE MUTATION; HAND MALFORMATION; HETEROZYGOTE; HUMAN; MOSLEM; PHALANX HYPOPLASIA; PHENOTYPE; POLAND; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; RARE DISEASE;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; BONE MORPHOGENETIC PROTEINS; DNA PRIMERS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 27444432536     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30969     Document Type: Article

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