Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1
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DOI: 10.1136/jmedgenet-2021-107887
Abstract: In 2016, we reported a child with bilateral lung cysts and left lung type II pleuropulmonary blastoma (PPB), classic phenotypes of DICER1 syndrome; we identified a DICER1 hotspot mutation c.5425G>A, p.Gly1809Arg in both a lung… read more here.
Keywords: dicer1; mosaicism; rnase iiib; foregut endoderm ... See more keywords