[Congenital cataracts facial dysmorphism neuropathy syndrome--first Hungarian case report]. [electronic resource]
Producer: 20070731Description: 257-62 p. digitalISSN:- 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
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Publication Type: Case Reports; Journal Article
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