Emberger Syndrome – A Family History Over 3 Generations

# Introduction Haploinsufficiency of _GATA2_ leads to impaired genesis and function of hematopoietic stem and progenitor cells, resulting in impairment of all subsequent blood cell lineages. Germline mutations in _GATA2_ are transmitted by autosomal-dominant inheritance. Leading clinical symptoms o...

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Bibliographic Details
Main Authors: Laura Rüegsegger, Urs Schanz, Katja Seipel, Thomas Pabst, Jürg Schwegler, Elisabeth Schmidt, Adrian Schmidt
Format: Article
Language:English
Published: THE HEALTHBOOK COMPANY LTD. 2022-12-01
Series:healthbook TIMES. Oncology Hematology
Online Access:https://doi.org/10.36000/hbT.OH.2022.14.092
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