- Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigmaJoyce Turner
National Human Genome Research Institute, Genetic Disease Research Branch, Bethesda, Maryland 20892 1253, USA
Am J Med Genet A 143:2089-97. 2007..These results provide groundwork for genetic counseling interventions aimed at addressing issues of courtesy stigma and further investigation of the phenomenon itself...
- Hedgehog signaling regulates sensory cell formation and auditory function in mice and humansElizabeth Carroll Driver
Section on Developmental Neuroscience, National Institute on Deafness and Other Communication Disorders, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
J Neurosci 28:7350-8. 2008..These results suggest that HH signaling plays a key role in the specification, size, and location of the prosensory domain, and therefore of hair cells, within the cochlea...
- Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndromeJennifer J Johnston
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Am J Med Genet A 123:236-42. 2003..We conclude that patients with GCPS caused by large deletions that include GLI3 are likely to have cognitive deficits, and we hypothesize that this severe GCPS phenotype is caused by deletion of contiguous genes...
- Radiologic manifestations of Proteus syndromeCarlos A Jamis-Dow
Department of Radiology, Georgetown University Hospital, Washington, DC, USA
Radiographics 24:1051-68. 2004..Although the manifestations of Proteus syndrome are highly variable, accurate diagnosis is possible if standard diagnostic criteria are followed and if disease features are assessed in comparison with those found in similar syndromes...