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Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.
Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.
Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.
Case reports of oculofaciocardiodental syndrome with unusual dental findings.
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Marinesco-Sjögren syndrome in a male with mild dysmorphism.
Velocardiofacial syndrome with single central incisor.
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.
A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T --> C in African- and European-Americans.