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Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
|
pubmed:dateCreated |
1996-12-3
|
pubmed:abstractText |
In 1993, Viljoen and Smart described a woman with ectrodactyly of the feet, midline facial cleft, microphthalmia, and mental retardation in association with a de novo chromosome 6;13 translocation. We present a man with similar features who had a normal karyotype.
|
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
|
pubmed:month |
Jan
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pubmed:issn |
0962-8827
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
5
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
77-9
|
pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:8867664-Adult,
pubmed-meshheading:8867664-Foot Deformities, Congenital,
pubmed-meshheading:8867664-Humans,
pubmed-meshheading:8867664-Male,
pubmed-meshheading:8867664-Microcephaly,
pubmed-meshheading:8867664-Microphthalmos,
pubmed-meshheading:8867664-Prognathism,
pubmed-meshheading:8867664-Syndrome
|
pubmed:year |
1996
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pubmed:articleTitle |
A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP).
|
pubmed:affiliation |
SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia.
|
pubmed:publicationType |
Journal Article,
Case Reports
|