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Am J Med Genet. 2000 Aug 28;93(5):421-5.

Acampomelic campomelic dysplasia with SOX9 mutation.

Author information

  • 1South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia. thongm@cryptic.rch.unimelb.edu.au

Abstract

Acampomelic campomelic dysplasia is a rare clinical variant of the more commonly encountered campomelic dysplasia (CMD1), characterized by absence of long bone curvature (acampomelia). We present a patient with acampomelic CMD1 with a de novo SOX9 missense mutation and report his clinical course to age one year, thereby contributing to genotype-phenotype correlation in CMD1. 2000.

Copyright 2000 Wiley-Liss, Inc.

PMID:
10951468
[PubMed - indexed for MEDLINE]
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