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LHX4 Mutation: New Perspective

1. Abstract Some transcription factors orchestrate the ontogeny of the pituitary gland, maintain the differentiated state and mediate the coordinated expression of specific cell type and their alteration can be involved in isolated and combined deficits. Among them, LHX4 gene mutations can manifest as a combined pituitary hormone deficiency and are associated with an ectopic […]

An Unusual PDGFRA Mutation in Gastrointestinal Stromal Tumor and Its NGS Data Analysis

1. Abstract 1.1. Introduction Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract [1]. About 75% of GISTs harbor activating mutations of KIT and About 10% of GISTs harbor PDGFRA activating mutations [2]. PDGFRA is the second most mutated oncogene in GIST and are particularly associated with gastric tumors [3,4].

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