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
Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review.
He Q et al.
Bmc Pediatrics, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
41170324 (PubMed )
Supplement: Data_Sheet_1.XLS › NDD-NPDs
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Wu R et al.
Orphanet Journal of Rare Diseases, 2024
38764027 (PubMed )
Supplement: 13023_2024_3214_MOESM1_ESM.xls › Sheet1
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
Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review.
Bo H et al.
Frontiers in Pediatrics, 2021
Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.
Zhang S et al.
Orphanet Journal of Rare Diseases, 2019
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
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