Linked Life Data

458526

Source:http://linkedlifedata.com/resource/pubmed/id/458526

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1979-9-25
pubmed:abstractText
An investigation has been made in a family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear, and dental anomalies. The carrier females show only slight symptoms. They all have lens opacities, and most of them show more symptoms. For genetic counseling it is of utmost importance to examine all family members and to re-examine the females from time to time for early lens opacificaiton, which is the most constant finding. In literature families have been described with similar clinical symptoms only a few times. We have been trying to demonstrate a linkage with the Xga locus, which might enable us to locate the mutant gene on the X-chromosome and to exclude with more certainty the carrier status. The results of this blood group specification were not informative. In future we hope to be able to demonstrate a linkage with other markers located on the X-chromosome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0191-3913
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
166-71
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies.
pubmed:publicationType
Journal Article