Amador, Claudia

Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. [electronic resource] - Journal of child neurology Aug 2008 - 901-5 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1708-8283

10.1177/0883073808317730 doi


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