cutaneous telangiectasia and cancer syndrome—familial

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cutaneous telangiectasia and cancer syndrome—familial2016-11-25T13:20:59+00:00

cutaneous telangiectasia and cancer syndrome—familial

ONCOLOGY

Definition A disease (OMIM:614564) characterised by cutaneous telangiectases in infancy with patchy alopecia, thinning of lateral eyebrows, mild dental and nail anomalies, and an increased risk of oropharyngeal cancer, and other malignancies.

Molecular pathology Defects of ATR, which encodes a PI3/PI4-kinase that initiates the DNA damage checkpoint, cause cutaneous telangiectasia and cancer syndrome—familial. 

Synonym Telangiectasia—cutaneous—and cancer syndrome—familial

Reference http://www.uniprot.org/uniprot/Q13535

http://www.omim.org/entry/614564

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