Macrocephaly associated with the DICER1 syndrome | Zendy

Nicholas E. Khan | Zendy; Andrew J. Bauer | Zendy; Leslie Doros | Zendy; Kris Ann P. Schultz | Zendy; Rosamma DeCastro | Zendy; Laura A. Harney | Zendy; Ron G. Kase | Zendy; Ann G. Carr | Zendy; Anne K. Harris | Zendy; Gretchen M. Williams | Zendy; Louis P. Dehner | Zendy; Yoav H. Messinger | Zendy; Douglas R. Stewart | Zendy

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Macrocephaly associated with the DICER1 syndrome

Author(s) -

Nicholas E. Khan,

Andrew J. Bauer,

Leslie Doros,

Kris Ann P. Schultz,

Rosamma DeCastro,

Laura A. Harney,

Ron G. Kase,

Ann G. Carr,

Anne K. Harris,

Gretchen M. Williams,

Louis P. Dehner,

Yoav H. Messinger,

Douglas R. Stewart

Publication year - 2016

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2016.83

Subject(s) - macrocephaly , medicine , mutation , population , pediatrics , genetics , biology , environmental health , gene

Germ-line mutations in DICER1 increase the risk of various tumors, including pleuropulmonary blastoma. Macrocephaly and symmetric overgrowth have been reported in some, but not all, patients with mosaic DICER1 RNase IIIb mutations. The prevalence of these features in individuals with constitutional germ-line DICER1 mutations is unknown.

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