Siska, Eva

[Congenital cataracts facial dysmorphism neuropathy syndrome--first Hungarian case report]. [electronic resource] - Ideggyogyaszati szemle May 2007 - 257-62 p. digital

Publication Type: Case Reports; Journal Article

0019-1442


Adolescent
Brain--diagnostic imaging
Cataract--congenital
Child
Child, Preschool
Developmental Disabilities--genetics
Facial Nerve Diseases--congenital
Female
Humans
Hungary
Infant
Magnetic Resonance Imaging
Mutation
Nuclear Proteins--genetics
Pedigree
Phosphoprotein Phosphatases--genetics
Polymerase Chain Reaction
Protein Phosphatase 1
Psychomotor Performance
Roma--genetics
Syndrome
Tomography, X-Ray Computed
Walking