Zobrazeno 1 - 10
of 241
pro vyhledávání: '"Floating Harbor syndrome"'
Publikováno v:
Pharmacogenomics and Personalized Medicine, Vol Volume 16, Pp 1091-1096 (2023)
Yi-Can Yang,1 Qiong Tang,1 Li-Juan Yan,1 Shi-Bin Zhang,2 Xiao-Min Ye,1 Dai Gong,1 Li Zou,1 Xiang-Lan Wen1 1Department of Children Health Care Center, Zhuzhou Hospital Affiliated to Xiangya Medical College, Central South University, Zhuzhou City, Huna
Externí odkaz:
https://doaj.org/article/9186903ac053446899c4fc87e716a3ff
Autor:
David Z. Allen, Soham Roy
Publikováno v:
Otolaryngology Case Reports, Vol 23, Iss , Pp 100406- (2022)
Floating Harbor Syndrome (FHS) is a rare genetic disease with few reports detailing its potential otologic manifestations. The objective of this paper is to discuss two FHS patients with otologic manifestations. The first patient presented with delay
Externí odkaz:
https://doaj.org/article/6d6642856bbd4571a9bd4e1c5cec6b3d
Autor:
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
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
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
Externí odkaz:
https://doaj.org/article/315a146fb9c64f6f8b773c8657802a5f
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 2, Pp 126-131 (2020)
Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short s
Externí odkaz:
https://doaj.org/article/efbe1171eb5b4538a19a1d427136eb5b
Akademický článek
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Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Introduction: We aimed to summarize the clinical characteristics of Floating-Harbor syndrome (FHS) and the effect of recombinant human growth hormone (rhGH) to increase height.Methods: The clinical manifestations, gene sequencing results, treatment,
Externí odkaz:
https://doaj.org/article/245fb3088b184b0fafe90ec341fa6547
Autor:
Shujie Zhang, Shaoke Chen, Haisong Qin, Haiming Yuan, Yalei Pi, Yu Yang, Hui Huang, Guimei Li, Yan Sun, Zhihua Wang, Huamei Ma, Xiaoling Fu, Ting Zhou, Jian Wang, Huifeng Zhang, Yiping Shen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP. Few Chinese FHS patients had been reported so far and limited knowledge regarding the benefit of growth hormone trea
Externí odkaz:
https://doaj.org/article/a258923d24bd405ab6ae09444bf97208
Akademický článek
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Akademický článek
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Autor:
Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang
Publikováno v:
Korean Journal of Pediatrics, Vol 61, Iss 12, Pp 403-406 (2018)
Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome
Externí odkaz:
https://doaj.org/article/a3498a2b85f645d8b4a86ace9ed94c27