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GATA2 Deficiency Syndrome (PDQ®)–Health Professional Version // Genetics of Hereditary Hematologic Malignancies (PDQ®)–Health Professional Version
GATA2 Deficiency Syndrome (PDQ®)–Health Professional Version
Germline loss-of-function variants in the master hematopoietic transcription factor, GATA2, can cause cellular deficiencies that have a high propensity to develop into myeloid malignancies. Initial reports identified GATA2 deficiency in cohorts of patients with the following conditions:
https://www.cancer.gov/publications/pdq/information-summaries/genetics/gata2?cid=eb_govdel#top
Genetics of Hereditary Hematologic Malignancies (PDQ®)–Health Professional Version
https://www.cancer.gov/publications/pdq/information-summaries/genetics/hereditary-hematologic-malignancies?cid=eb_govdel#top
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