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Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review

Introduction: Floating Harbor syndrome (FHS) is an extremely rare disorder, with slightly more than a hundred cases reported worldwide. FHS is caused by heterozygous mutations in the SRCAP gene; however, little is known about the pathogenesis of FHS or the effectiveness of its treatment. Methods: Wh...

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Detalles Bibliográficos
Autores principales:	Turkunova, Mariia E., Barbitoff, Yury A., Serebryakova, Elena A., Polev, Dmitrii E., Berseneva, Olga S., Bashnina, Elena B., Baranov, Vladislav S., Glotov, Oleg S., Glotov, Andrey S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9157637/ https://www.ncbi.nlm.nih.gov/pubmed/35664296 http://dx.doi.org/10.3389/fgene.2022.846101

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