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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

✍ Scribed by Viviana Caputo; Luciano Cianetti; Marcello Niceta; Claudio Carta; Andrea Ciolfi; Gianfranco Bocchinfuso; Eugenio Carrani; Maria Lisa Dentici; Elisa Biamino; Elga Belligni; Livia Garavelli; Loredana Boccone; Daniela Melis; Generoso Andria; Bruce D. Gelb; Lorenzo Stella; Margherita Silengo; Bruno Dallapiccola; Marco Tartaglia


Book ID
113423158
Publisher
American Society of Human Genetics
Year
2012
Tongue
English
Weight
617 KB
Volume
90
Category
Article
ISSN
0002-9297

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The PTEN (MMAC1/TEP1) tumor suppressor gene was recently isolated and mapped to human chromosome band 10q23. Homozygous deletions and mutations of PTEN were observed in cell lines and sporadic cancers of the breast, kidney, and central nervous system. Germline mutations in PTEN were recently found i