Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34

Clin Genet. 2014 May;85(5):498-9. doi: 10.1111/cge.12199. Epub 2013 Jun 13.

Authors

M Kehrer¹, A Beckmann, J Wyduba, U Finckh, A Dufke, U Gaiser, A Tzschach

Affiliation

¹ Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.

PMID: 23763483
DOI: 10.1111/cge.12199

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / physiopathology
Adenosine Triphosphatases / genetics*
Child
Craniofacial Abnormalities / genetics*
Craniofacial Abnormalities / physiopathology
Exons
Growth Disorders / genetics*
Growth Disorders / physiopathology
Heart Septal Defects, Ventricular / genetics*
Heart Septal Defects, Ventricular / physiopathology
Humans
Male
Mutation

Substances

Adenosine Triphosphatases
SRCAP protein, human

Supplementary concepts

Floating-harbor syndrome