Associated Papers
Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.
Yang W et al.
European Journal of Pediatrics, 2026
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
Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome.
Nogueira E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D et al.
American Journal of Human Genetics, 2021
Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.
Zhang S et al.
Orphanet Journal of Rare Diseases, 2019
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
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