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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene

Fig. 3

Distribution of EP300 domains and mutations in our patient (in red arrow) versus in previous patient cohort (in black arrow). Schematic representation of the EP300 protein and functional domains excerpted from http://www.ebi.ac.uk/interpro/ at March 26th 2021. Previous patient cohort refers to the cohort published [7, 14,15,16]. Previous patients marked by red box accorded with the diagnosis of MKHK, the other previous patients marked by green box accorded with the diagnosis of RSTS

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BMC Medical Genomics

ISSN: 1755-8794

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