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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1996-12-3
|
| pubmed:abstractText |
Congenital alacrima is an autosomal dominant disorder showing markedly deficient lacrimation and punctate corneal epithelial erosions. The G (Opitz-Frias) syndrome is also an autosomal dominant disorder characterised by hypertelorism, hypospadias, stridor, and dysphagia. Here we report a 5-year-old boy with the G syndrome presenting congenital alacrima.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Apr
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
97
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
540-2
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:8834259-Abnormalities, Multiple,
pubmed-meshheading:8834259-Child, Preschool,
pubmed-meshheading:8834259-Esophagus,
pubmed-meshheading:8834259-Face,
pubmed-meshheading:8834259-Humans,
pubmed-meshheading:8834259-Lacrimal Apparatus,
pubmed-meshheading:8834259-Larynx,
pubmed-meshheading:8834259-Male,
pubmed-meshheading:8834259-Syndrome
|
| pubmed:year |
1996
|
| pubmed:articleTitle |
Congenital alacrima in a patient with G (Opitz Frias) syndrome.
|
| pubmed:affiliation |
Department of Medical Genetics, Erciyes University, Kayseri, Turkey.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|