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

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: Who...

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Bibliographic Details
Main Authors: Mariia E. Turkunova, Yury A. Barbitoff, Elena A. Serebryakova, Dmitrii E. Polev, Olga S. Berseneva, Elena B. Bashnina, Vladislav S. Baranov, Oleg S. Glotov, Andrey S. Glotov
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Genetics
Subjects:
Floating Harbor syndrome
SRCAP
growth hormone therapy
short stature
whole-exome sequencing
facial dysmorphisms
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.846101/full

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