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Figure 2 | BMC Medical Genetics

Figure 2

From: Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

Figure 2

Schematic representation of the SRCAP gene and positions of known SRCAP mutations. A - In this study, five de novo mutations have been identified to cause FHS (red frame – novel mutations, red-gray dashed frame – recurrent mutations). B - Expanded SRCAP protein network predicted functional links to several proteins involved in transcriptional regulation of selected genes by chromatin remodeling including CREBBP.

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