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Malignant tissues showed moderate nuclear or nucleolar staining. A few cases of squamous cell carcinomas of skin, head and neck cancers, colorectal, urothelial cancers along with occasional cases of pancreatic and testicular cancers displayed strong positivity.
GENE INFORMATION
Gene name
EVC2 (HGNC Symbol)
Synonyms
LBN
Description
Ellis van Creveld syndrome 2 (HGNC Symbol)
Entrez gene summary
This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
