Zobrazeno 1 - 10
of 101
pro vyhledávání: '"Proximal symphalangism"'
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background Proximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at least two types of proxi
Externí odkaz:
https://doaj.org/article/ee27168ab2d14a5a81ff2632a7ad61f0
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background Proximal symphalangism (SYM1; OMIM 185800), also called Cushing’s symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient typically features variable fusion of proximal interphalangeal joints in the hands and
Externí odkaz:
https://doaj.org/article/ae4be96188744e4990ea537c9abf65c1
Akademický článek
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Autor:
Jing Xiong, Wei Tu, Yifei Yan, Kai Xiao, Yanyi Yao, Shouxin Li, Liu Yang, Min Zhou, Yang Liu, Jin Hu, Feng Zhu
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
BackgroundProximal symphalangism (SYM1) is a rare genetic bone disorder characterized by the fusion of proximal interphalangeal joints in the hands and feet. Genetic studies have identified two genes underlying SYM1 as the noggin (NOG) and the growth
Externí odkaz:
https://doaj.org/article/a62a2db5d06d41ca9da26379717584f3
Publikováno v:
American Journal of Medical Genetics Part A. 188:269-271
Esophageal atresia and tracheoesophageal fistula (EA/TEF) are relatively common malformations of the human foregut. The etiology remains incompletely understood with genetic causes identified in a small minority of affected patients. We present the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f6051517a6256c77a2e4d18b98202ee
https://doi.org/10.1002/ajmg.a.62486
https://doi.org/10.1002/ajmg.a.62486
Akademický článek
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Publikováno v:
Bioscience Reports
Proximal symphalangism (SYM1) is an autosomal dominant disorder manifested by ankylosis of the proximal interphalangeal joints of fingers, carpal and tarsal bone fusion, and conductive hearing loss in some cases. Herein, we clinically diagnosed a Chi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc799506cda982d5c2410e141f138bb0
https://doi.org/10.1042/bsr20200509
https://doi.org/10.1042/bsr20200509
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
BackgroundProximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at least two types of proximal sympha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5d09f2930078068c8e0f24abe8c12cd
https://doi.org/10.1186/s12881-019-0917-5
https://doi.org/10.1186/s12881-019-0917-5
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
BMC Medical Genetics
BMC Medical Genetics
Background Proximal symphalangism (SYM1; OMIM 185800), also called Cushing’s symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient typically features variable fusion of proximal interphalangeal joints in the hands and feet. Me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d607569267f286b5a76541a6daa8b4f3
https://doi.org/10.1186/s12881-019-0864-1
https://doi.org/10.1186/s12881-019-0864-1