Shabo, George
Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity. [electronic resource]
- Pediatric neurology Oct 2005
- 277-9 p. digital
Publication Type: Case Reports; Journal Article
0887-8994
10.1016/j.pediatrneurol.2005.04.011 doi
Cataract--congenital
Child, Preschool
Craniofacial Abnormalities--genetics
Diagnosis, Differential
Female
Humans
Neural Conduction
Phosphoprotein Phosphatases--genetics
Point Mutation
Roma--genetics
Sural Nerve--pathology
Syndrome