RT Journal Article
SR Electronic
T1 Norrie disease resulting from a gene deletion: clinical features and DNA studies.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 73
OP 78
DO 10.1136/jmg.25.2.73
VO 25
IS 2
A1 Donnai, D
A1 Mountford, R C
A1 Read, A P
YR 1988
UL http://jmg.bmj.com/content/25/2/73.abstract
AB We describe a family in which two boys with Norrie disease have a deletion of the DXS7 locus. The deletion does not extend as far distally as the OTC or DXS84 loci. A full clinical description of the patients is given to help establish the range of manifestations of Norrie disease. There is no evidence of any other X linked disease in our patients.