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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| 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
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| Series: | healthbook TIMES. Oncology Hematology |
| Online Access: | https://doi.org/10.36000/hbT.OH.2022.14.092 |
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