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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1976-9-1
|
| pubmed:abstractText |
A typical case of familial blepharophimosis is reported. The genealogical tree is reviewed up to the third generation, finding a total of seven affected individuals, 40% of the studied patients. A nervous pattern in the E.N.G. of the facial nerve was found and its possible implication in the genesis of the facial features is discussed. In the genetic study, there was a normal cariotype, and in the genealogical tree a dominant autosomic transmission, without any evident difference in the transmission related to the primitively involved sex was observed.
|
| pubmed:language |
spa
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0302-4342
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
9
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
141-9
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:180858-Child, Preschool,
pubmed-meshheading:180858-Eyelid Diseases,
pubmed-meshheading:180858-Facial Nerve,
pubmed-meshheading:180858-Genes, Dominant,
pubmed-meshheading:180858-Humans,
pubmed-meshheading:180858-Karyotyping,
pubmed-meshheading:180858-Male,
pubmed-meshheading:180858-Pedigree,
pubmed-meshheading:180858-Peripheral Nervous System Diseases
|
| pubmed:articleTitle |
[Familial blepharophimosis (author's transl)].
|
| pubmed:publicationType |
Journal Article,
English Abstract
|