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Article

Extending the phenotypes associated with DICER1 mutations.

Human mutation - 1 Dec 2011

Foulkes William D, Bahubeshi Amin, Hamel Nancy, Pasini Barbara, Asioli Sofia, Baynam Gareth, Choong Catherine S, Charles Adrian, Frieder Richard P, Dishop Megan K, Graf Nicole, Ekim Mesiha, Bouron-Dal Soglio Dorothée, Arseneau Jocelyne, Young Robert H, Sabbaghian Nelly, Srivastava Archana, Tischkowitz Marc D, Priest John R

Abstract excerpt

DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline DICER1 mutations have been reported worldwide in 42 probands that developed as children or young adults, pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian sex cord-stromal tumors (especially Sertoli-Leydig cell tumor [SLCT]), and/or multinodular goiter (MNG). We report DICER1 mutations in seven additional...

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Identifiers

PMID: 21882293
DOI: 10.1002/humu.21600

Genes

DICER1

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