X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.
Saldana
Manuel
M
Department of Ophthalmology, Leeds General Infirmary, Leeds, United Kingdom.
Thompson
Jenny
J
Monk
Elizabeth
E
Trump
Dorothy
D
Long
Vernon
V
Sheridan
Eamonn
E
D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D020125:Mutation, Missense; D041441:Retinoschisis / Q000235:genetics* / Q000473:pathology
D005136:Eye Proteins; C108726:RS1 protein, human