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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.
Previous findings from our lab and other had associated missense variants in the distal region of CCND2 to MPPH, a complex phenotype with megalencephaly.
