Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
Author:
Publisher
Korean Society of Pediatric Endocrinology
Subject
Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Link
http://e-apem.org/upload/pdf/apem-1938144-072.pdf
Reference19 articles.
1. The defining DNA methylation signature of Floating-Harbor Syndrome
2. Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome
3. Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspotSRCAPmutation
4. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
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1. A Case of Floating-Harbor Syndrome with “Growth and Language Development Delay” as Its Clinical Manifestation;Pharmacogenomics and Personalized Medicine;2023-12
2. Clinical application of prospective whole‐exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea;Annals of Human Genetics;2023-10-05
3. Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review;Frontiers in Genetics;2022-05-18
4. Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review;Frontiers in Pediatrics;2021-11-05
5. Empty Sella Syndrome Associated with Growth Hormone Deficiency: the First Case Report of Weiss-Kruszka Syndrome;Journal of Korean Medical Science;2021
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