Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP

Siddharth Banka, Rebecca Sayer, Catherine Breen, Stephanie Barton, Julija Pavaine, Sarah E Sheppard, Emma Bedoukian, Cara Skraban, Vishnu A Cuddapah, Jill Clayton-Smith

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Biochemistry, Genetics and Molecular Biology