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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1994-1-27
|
| pubmed:abstractText |
The oral-facial-digital (OFD) syndromes constitute a heterogeneous group of entities usually associated with certain features that permit a specific diagnosis. This report refers to a 10-month-old girl with cleft palate, mesomelic limb shortening, oligopolydactyly, and fibular aplasia. Since this combination has not been described previously, it is proposed as a distinct type of oral-facial-digital syndrome, and we suggest mutations of homeotic genes to explain some abnormalities present in the OFD syndromes.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
0009-9163
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
44
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
190-2
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading | |
| pubmed:year |
1993
|
| pubmed:articleTitle |
Oral-facial-digital syndrome with fibular aplasia: a new variant.
|
| pubmed:affiliation |
División de Genética, CMNO-IMSS, Guadalajara, Jalisco, Mexico.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|