Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome

American Journal of Medical Genetics, Part A

Volumn 140, Issue 18, 2006, Pages 1955-1959

  Kannu, Peter ^a,d,e   Oei, Paul ^b   Slater, Howard R ^a,d,e   Khammy, Ouda ^a   Aftimos, Salim ^c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b AUCKLAND CITY HOSPITAL   (New Zealand)

^c AUCKLAND CITY HOSPITAL   (New Zealand)

^d MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

6p25 microdeletion; Epiphyseal dysplasia; Rieger syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 6P; CHROMOSOME ARM; CHROMOSOME DELETION; CLUBFOOT; DEVELOPMENTAL DISORDER; EPIPHYSIS DISEASE; EPITHELIUM DYSPLASIA; FACIES; FEMALE; FEMUR MALFORMATION; HEARING LOSS; HUMAN; HUMERUS; JOINT MALFORMATION; PRIORITY JOURNAL; RIEGER SYNDROME; SCHOOL CHILD; SKELETON MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BONE DISEASES, DEVELOPMENTAL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; EPIPHYSES; EYE ABNORMALITIES; FACIES; FEMALE; FEMUR; HUMANS; HUMERUS; MUSCULOSKELETAL ABNORMALITIES;

EID: 33748592858     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31411     Document Type: Article

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