Variants in CCND2 gene are known to cause syndromic macrocephaly. Recently inverse growth proximal variants were described in five individuals with microcephaly. CCND2 loss of function distal variants can cause fetal microcephaly.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545358 | PMC |
http://dx.doi.org/10.1002/pd.6148 | DOI Listing |
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