Article

A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.

2023-06-12

Abstract excerpt

<title>Abstract</title> <p>Cyclin D2 (CCND2) stabilisation underpins a range of macrocephaly-associated disorders through mutation of CCND2, or activating mutations in upstream genes encoding PI3K-AKT pathway components. Here we describe three individuals with overlapping macrocephaly-associated phenotypes who carry the same recurrent de novo p.Arg60Gln variant in Myc-associated factor X (MAX). The mutation, loca...

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Literature Corpus work: ca20ce6d-e562-5ae7-9e5b-06aeab30ffb8
DOI: 10.21203/rs.3.rs-2944536/v1

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