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Volumn 23, Issue 8, 2008, Pages 901-905
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Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-Generation hispanic family
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Author keywords
Connexin 43; GJA1; Mutation; Oculodentodigital dysplasia; Paraparesis; Phenotype; Quadriparesis
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Indexed keywords
CONNEXIN 43;
GENOMIC DNA;
ISOLEUCINE;
THREONINE;
ADOLESCENT;
ADULT;
AGED;
AMINO ACID SUBSTITUTION;
ARTICLE;
ATAXIA;
CASE REPORT;
CATARACT;
CLINICAL FEATURE;
CONDUCTION DEAFNESS;
COORDINATION DISORDER;
EPILEPSY;
FEMALE;
GAIT DISORDER;
GENETIC VARIABILITY;
GENOTYPE PHENOTYPE CORRELATION;
HISPANIC;
HONDURAS;
HUMAN;
MALE;
MISSENSE MUTATION;
NUCLEAR MAGNETIC RESONANCE IMAGING;
OCULODENTODIGITAL SYNDROME;
PEDIGREE ANALYSIS;
PHENOTYPE;
POLYMERASE CHAIN REACTION;
PRESCHOOL CHILD;
PRIORITY JOURNAL;
PROGNOSIS;
SEQUENCE ANALYSIS;
SPASTIC PARESIS;
SYNDACTYLY;
TREMOR;
URINE INCONTINENCE;
WALKING DIFFICULTY;
ABNORMALITIES, MULTIPLE;
ADOLESCENT;
ADULT;
AGED;
BRAIN;
CHILD;
CHROMOSOME ABERRATIONS;
CONNEXIN 43;
CRANIOFACIAL ABNORMALITIES;
EXONS;
EYE ABNORMALITIES;
FEMALE;
GAIT DISORDERS, NEUROLOGIC;
GENES, DOMINANT;
GENETIC COUNSELING;
GENOTYPE;
HUMANS;
MAGNETIC RESONANCE IMAGING;
MALE;
MUTATION, MISSENSE;
NEUROLOGIC EXAMINATION;
PARAPLEGIA;
PEDIGREE;
PENETRANCE;
PHENOTYPE;
PROGNOSIS;
QUADRIPLEGIA;
SPINAL CORD;
SYNDACTYLY;
TOOTH ABNORMALITIES;
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EID: 48449106578
PISSN: 08830738
EISSN: None
Source Type: Journal
DOI: 10.1177/0883073808317730 Document Type: Article |
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Times cited : (16)
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References (8)
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