Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome

BACKGROUND: Constitutional DICER1 mutations have been associated with pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig tumours and multinodular goitres, while somatic DICER1 mutations have been reported in additional tumour types. Here we report a novel syndrome termed GLOW, an acronym for...

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Udgivet i:J Med Genet
Main Authors: Klein, Steven, Lee, Hane, Ghahremani, Shahnaz, Kempert, Pamela, Ischander, Mariam, Teitell, Michael A, Nelson, Stanley F, Martinez-Agosto, Julian A
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4429769/
https://ncbi.nlm.nih.gov/pubmed/24676357
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-101943
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