Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype

Journal of Medical Genetics

Volumn 35, Issue 7, 1998, Pages 597-599

  Savarirayan, Ravi ^a   Bankier, Agnes ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Acampomelic campomelic dysplasia; Translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME 5Q; FEMALE; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; RECIPROCAL CHROMOSOME TRANSLOCATION; SKELETON MALFORMATION; STRUCTURAL CHROMOSOME ABERRATION;

EID: 0031865003     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.7.597     Document Type: Article

References (14)

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