Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. [electronic resource]
Producer: 20081017Description: 901-5 p. digitalISSN:- 1708-8283
- Abnormalities, Multiple -- diagnosis
- Adolescent
- Adult
- Aged
- Brain -- pathology
- Child
- Chromosome Aberrations
- Connexin 43 -- genetics
- Craniofacial Abnormalities -- diagnosis
- Exons -- genetics
- Eye Abnormalities -- diagnosis
- Female
- Gait Disorders, Neurologic -- diagnosis
- Genes, Dominant -- genetics
- Genetic Counseling
- Genotype
- Humans
- Magnetic Resonance Imaging
- Male
- Mutation, Missense
- Neurologic Examination
- Paraplegia -- diagnosis
- Pedigree
- Penetrance
- Phenotype
- Prognosis
- Quadriplegia -- diagnosis
- Spinal Cord -- pathology
- Syndactyly -- diagnosis
- Tooth Abnormalities -- diagnosis
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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