Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
Non-penetrance or minimal expression as a genetic counselling problem in the blepharophimosis syndrome is discussed.
Temple
I K
IK
Hospitals for Sick Children, London.
Baraitser
M
M
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001763:Blepharoptosis / Q000151:congenital* / Q000235:genetics; D002648:Child; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D013577:Syndrome