Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes

Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes

Macrocephaly frequently occurs in single-gene disorders affecting the PI3K-AKT-MTOR pathway; however, epigenetic mutations, mosaicism, and copy number variations (CNVs) are emerging relevant causative factors, revealing a higher genetic heterogeneity than previously expected. The aim of this study w...

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Bibliographic Details
Main Authors: Giovanna Civitate Bastos, Giovanna Cantini Tolezano, Ana Cristina Victorino Krepischi
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Genes
Subjects:
CNV
macrocephaly
neurodevelopmental disorders
<i>TRAPPC9</i>
<i>RALGAPB</i>
<i>RBMS3</i>
Online Access:https://www.mdpi.com/2073-4425/13/12/2285

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