Article

DICER1 Syndrome with an Intronic Germline Variant Causing Splice Alteration

2024-05-02

Abstract excerpt

Patients with DICER1 syndrome typically harbor a germline truncating variant in the coding region. Here, we report a case of DICER1 syndrome caused by an intronic germline variant. The patient was diagnosed with pleuropulmonary blastoma at the 3 years of age, and a somatic p.D1810Y, but not a germline variant in DICER1 was detected by whole-exome sequencing. After 13 years, he developed urogenital embryonal rha...

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Literature Corpus work: 8b847df1-c79d-5c8a-bfe3-ffd0b834155a
DOI: 10.22541/au.171463356.63547958/v1

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