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A Recurrent De Novo MAX P.arg60gln Variant Causes a Syndromic Overgrowth Disorder Through Differential Expression of C-Myc Target Genes.

Erica L. Harris, Vincent Roy,Martin Montagne,Ailsa M. S. Rose, Helen Livesey,Margot R. F. Reijnders,Emma Hobson,Francis H. Sansbury,Marjolein H. Willemsen,Rolph Pfundt,Daniel Warren,Vernon Long,Ian M. Carr,Han G. Brunner,Eamonn G. Sheridan,Helen V. Firth,Pierre Lavigne,James A. Poulter

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

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关键词
MAX,MYC,CCND2,b-HLH-LZ,macrocephaly,polydactyly
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