|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
2000-10-24
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|
pubmed:abstractText |
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.
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|
pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
0148-7299
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|
pubmed:author |
|
|
pubmed:copyrightInfo |
Copyright 2000 Wiley-Liss, Inc.
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|
pubmed:issnType |
Print
|
|
pubmed:day |
28
|
|
pubmed:volume |
93
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
421-5
|
|
pubmed:dateRevised |
2008-11-21
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|
pubmed:meshHeading |
|
|
pubmed:year |
2000
|
|
pubmed:articleTitle |
Acampomelic campomelic dysplasia with SOX9 mutation.
|
|
pubmed:affiliation |
South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia. thongm@cryptic.rch.unimelb.edu.au
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
