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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Detalles Bibliográficos
Autores principales: Bastos, Giovanna Civitate, Tolezano, Giovanna Cantini, Krepischi, Ana Cristina Victorino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778424/
https://www.ncbi.nlm.nih.gov/pubmed/36553552
http://dx.doi.org/10.3390/genes13122285

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778424/
https://www.ncbi.nlm.nih.gov/pubmed/36553552
http://dx.doi.org/10.3390/genes13122285

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