Exome Sequencing Identifies A Branch Point Variant in AarskogScott Syndrome

Aten, E.; Sun, Y.; Almomani, R.; Santen, G.W.E.; Messemaker, T.; Maas, S.M.; ... ; Dunnen, J.T. den (2013)

Article / Letter to editor

• FGD1 protein
• exome sequencing
• Aarskog syndrome
• RNA splice sites
• branch point mutations

• All authors: Aten, E.; Sun, Y.; Almomani, R.; Santen, G.W.E.; Messemaker, T.; Maas, S.M.; Breuning, M.H.; Dunnen, J.T. den
• Date: 2013-03-31
• Journal: Human Mutation
• Volume: 34
• Issue: 3
• Pages: 430 - 434
• DOI: doi:10.1002/humu.22252