Human Diseases Caused By Haploinsufficiency
These include:
- Some cancers
- Cleidocranial dysostosis
- Ehlers-Danlos syndrome
- Marfan syndrome
- Polydactyly
- 5q- syndrome in myelodysplastic syndrome (MDS)
- TAR syndrome, 1q21.1 deletion syndrome
- Holt–Oram syndrome
- Phelan-McDermid syndrome
Read more about this topic: Haploinsufficiency
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