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Irish Child Health Database - Peer Reviewed Papers

Database Search

Syndrome V.A.T.E.R. syndrome Vertebrae, Anus, Trachea, Esophagus, and Renal

Your search returns 1 documents

• 1.   A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

  These case reports discuss a novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

  

  Abstract:

  Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of more...

  International Classification:

  Syndrome V.A.T.E.R. syndrome Vertebrae, Anus, Trachea, Esophagus, and Renal

  Categories:

  V.A.T.E.R. syndrome - abnormalities: Vertebrae, Anus, Trachea, Esophagus, and Renal

  Geography:

  Republic of Ireland

  J Med Genet, Vol: 38 Page: 820-3 December 2001
  W. Reardon; X. P. Zhou; C. Eng

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