Associated Papers
Two iPSC lines with a heterozygous frameshift mutation in the floating-harbour syndrome locus of the SRCAP gene.
Rhode J et al.
Stem Cell Research, 2025
Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review.
Turkunova ME et al.
Frontiers in Genetics, 2022
The defining DNA methylation signature of Floating-Harbor Syndrome.
Hood RL et al.
Scientific Reports, 2016
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.
Seifert W et al.
Bmc Medical Genetics, 2014
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Nikkel SM et al.
Orphanet Journal of Rare Diseases, 2013
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Hood RL et al.
American Journal of Human Genetics, 2012
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