A Rare PDGFRA Exon 15 Germline Mutation Identified in a Patient With Phenotypic Manifestations Concerning for GIST-Plus Syndrome: A Case Report and Review of Literature.
Sign Up to like & getrecommendations! Published in 2023 at "International journal of surgical pathology"
DOI: 10.1177/10668969231152588
Abstract: Molecular alterations in PDGFRA are well-described as drivers of sporadic gastrointestinal stromal tumors (GISTs) and inflammatory fibroid polyps (IFPs). However, a small number of families with germline PDGFRA mutations in exons 12, 14, and 18… read more here.
Keywords: germline; plus syndrome; pdgfra exon; phenotypic manifestations ... See more keywords
Rare Phenotypic Manifestations of MELAS
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DOI: 10.3349/ymj.2020.61.10.904
Abstract: www.eymj.org To the Editor, Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike episodes (MELAS) syndrome is one of the most frequent syndromic mitochondrial disorders (MIDs). It is diagnosed according to the Japanese criteria if at least two… read more here.
Keywords: phenotypic manifestations; manifestations melas; phenotypic; disease ... See more keywords