Zobrazeno 1 - 10
of 152
pro vyhledávání: '"SHORT syndrome"'
Publikováno v:
Journal of Diabetes Investigation, Vol 12, Iss 10, Pp 1919-1922 (2021)
Abstract SHORT syndrome (short stature, hyperextensibility, ocular depression [deeply set eyes], Rieger anomaly and teething delay) is very rare, with a few cases reported in the literature. We report a case of SHORT syndrome with a novel PIK3R1 muta
Externí odkaz:
https://doaj.org/article/9229903f2ae34454886686640416fa04
Autor:
Liying Sun, Qianwen Zhang, Qun Li, Yijun Tang, Yirou Wang, Xin Li, Niu Li, Jian Wang, Xiumin Wang
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by t
Externí odkaz:
https://doaj.org/article/19226a2d562a4da69d173cd62331ec97
Autor:
Krzysztof C. Lewandowski, Katarzyna Dąbrowska, Maria Brzozowska, Joanna Kawalec, Andrzej Lewiński
Publikováno v:
Diabetology & Metabolic Syndrome, Vol 11, Iss 1, Pp 1-4 (2019)
Abstract Background SHORT syndrome is an autosomal dominant condition associated severe insulin resistance (IR) and lipoatrophy due to post-receptor defect in insulin signaling involving phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1), where
Externí odkaz:
https://doaj.org/article/dcd3100fef44401483272794d253e94c
Autor:
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100768- (2021)
SHORT syndrome is a rare, multisystem disease named with the acronym arising from short stature, hyperextensibility of joints, ocular depression, Rieger anomaly, and teething delay. Metabolic anomalies such as insulin resistance and diabetes are also
Externí odkaz:
https://doaj.org/article/b168780cf3bd4d85b8d8c41060a2b584
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
SHORT syndrome is a rare autosomal dominant disorder characterized by multiple congenital defects and is historically defined by its acronym: short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and t
Externí odkaz:
https://doaj.org/article/afa261693ba4428f8be7c0ae71a0097d
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background SHORT syndrome is a rare inherited multisystem disease that includes characteristic facial features, growth retardation, and metabolic anomalies and is related to heterozygous mutations in the PIK3R1 gene. However, it is difficult
Externí odkaz:
https://doaj.org/article/1dd24b95761942c7926abc1635560939
Publikováno v:
Frontiers in Immunology, Vol 10 (2019)
Monogenic forms of vasculitis are rare, but increasingly recognised. Furthermore, genetic immunodeficiency is increasingly associated with inflammatory immune dysregulatory features, including vasculitis. We describe a child of non-consanguineous par
Externí odkaz:
https://doaj.org/article/89a3b39b7b50495d8e711bf999d533b0
Autor:
Yusnita Yakob, Keng Wee Teik, Muzhirah Haniffa, Ch'ng Gaik Siew, Siti Aishah Abdul Wahab, Winnie Ong Peitee
Publikováno v:
Malaysian Journal of Paediatrics and Child Health. 27:23-27
SHORT Syndrome is a rare genetic condition with less than 50 cases reported worldwide. Its name is an acronym, represented by Short stature, Hyperextensibility of joints, Ocular depression, Rieger anomaly and Teething delay. Other associated features
Publikováno v:
The Cleft Palate-Craniofacial Journal. 59:873-881
Introduction: SHORT syndrome is a rare autosomal dominant condition described by its acronym of short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger abnormality, and teething delay. Individuals have a distinct
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