Blepharophimosis syndrome (BPES) and additional abnormalities in a female with a balanced X:3 translocation.
Karimi-Nejad
A
A
Karimi-Nejad
R
R
Najafi
H
H
Karimi-Nejad
M H
MH
D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D007223:Infant; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome