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