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Journal article

Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history

R Savarirayan, RJ Boyle, J Masel, JG Rogers, LJ Sheffield

American Journal of Medical Genetics | WILEY-LISS | Published : 2004

DOI: 10.1002/ajmg.a.20383

University of Melbourne Researchers

Leslie Sheffield's Profile Picture
Leslie Sheffield Author Paediatrics Royal Children's Hospital

John Rogers's Profile Picture
John Rogers Author Paediatrics Royal Children's Hospital

Ravi Savarirayan's Profile Picture
Ravi Savarirayan Author Paediatrics Royal Children's Hospital

Citation metrics

7Web of Science
11Dimensions

Keywords

Time Factors
Follow-Up Studies
Sterols
Radiography
Karyotyping
Myelopathy
Infant
Male
Punctate Epiphyseal Dysplasia
Child
Diagnosis
Adult
Genetics & Heredity
Female
Arylsulfatases
Mesomelic Dysplasia
Adolescent
Science & Technology
Calcific Stippling
Tibia
Chondrodysplasia Punctata
Brachymetacarpy
Mesomelia
Metacarpus
Child, Preschool
Osteochondrodysplasia
Humans
Dna
Mutations
Life Sciences & Biomedicine

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