摘要
Purpose(#br)Optic nerve hypoplasia ( ONH ) is a rare blinding malformation, ONH is often syndromic with MRI pituitary anomalies. We explore genetic causes of isolated ONH(#br)Methods(#br)Probands (2F/4M) 0.5‐6 yrs with normal pituitary MRI were enrolled after consent with Pediatric, dysmorphologic a...