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Dr. Milena Pirozzi, MSc, PhD Profile picture
Dr. Milena Pirozzi, MSc, PhD
@biomilly
Neurogeneticist, wife and mother. CEO and Principal Consultant @PurplexCell. Stem cells and organoids enthusiast, supporter of #WIS and #openscience.
Jun 8, 2021 • 9 tweets • 3 min read
Excited to share with you all the latest paper from @LabMirzaa : an intriguing (I might be biased) story on inverse brains growth phenotypes due to mutations in proximal vs distal regions of CCND2. #research #neuroscience #raredisorders onlinelibrary.wiley.com/doi/10.1002/aj… We found that frameshift and nonsense variants in the proximal domain of CCND2 lead to microcephaly, short stature and mild intellectual impairment in three unrelated families.