Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Disproportionate dwarfism"'
Autor:
Michael Butler Brown, Emma Wells
Publikováno v:
BMC Research Notes, Vol 13, Iss 1, Pp 1-6 (2020)
Abstract Objective Skeletal dysplasias, cartilaginous or skeletal disorders that sometimes result in abnormal bone development, are seldom reported in free-ranging wild animals. Here, we use photogrammetry and comparative morphometric analyses to des
Externí odkaz:
https://doaj.org/article/842aa83d592d4468a87f8fdfbc066953
Autor:
K V Swathi, G Maragathavalli
Publikováno v:
Indian Journal of Dental Research, Vol 31, Iss 5, Pp 794-798 (2020)
Achondroplasia is a genetic disorder that is due to mutation of fibroblast growth factor receptor (FGFR3) gene and it results in dwarfism. It is inherited as an autosomal dominant trait. The classical clinical features seen are disproportionate dwarf
Externí odkaz:
https://doaj.org/article/335bc708f2184d7eb12c35e723ed3620
Publikováno v:
The Egyptian Journal of Radiology and Nuclear Medicine, Vol 48, Iss 1, Pp 245-250 (2017)
Pseudoachondroplasia is a rare osteochondrodysplasia characterized by disproportionate short stature and limb deformity. Diagnostic accuracy is based on a detailed evaluation of the radioclinical features. We report a boy with pseudoachondroplasia. W
Externí odkaz:
https://doaj.org/article/66600805815144f39a691417b1760054
Publikováno v:
Oman Journal of Ophthalmology, Vol 3, Iss 1, Pp 23-25 (2010)
Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, nail dysplasia and in 50-60% cases of congenital cardiac defects. It is an autoso
Externí odkaz:
https://doaj.org/article/3edfa51f40144128a3b3800ffe861b1f
Publikováno v:
International Journal of Paleopathology. 20:65-71
A 66 year-old woman with a disproportionate dwarfism and who bore seven children was discovered at the Middenbeemster archaeological site (The Netherlands). Three are perinates and show no macroscopic or radiological evidence for a FGFR3 mutation cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c89c637259d40e0d64f4d501eec885c
https://doi.org/10.1016/j.ijpp.2017.12.002
https://doi.org/10.1016/j.ijpp.2017.12.002
Akademický článek
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Publikováno v:
The Egyptian Journal of Radiology and Nuclear Medicine, Vol 48, Iss 1, Pp 245-250 (2017)
Pseudoachondroplasia is a rare osteochondrodysplasia characterized by disproportionate short stature and limb deformity. Diagnostic accuracy is based on a detailed evaluation of the radioclinical features. We report a boy with pseudoachondroplasia. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f70fcb77165074be85593d102cfbfe00
Autor:
Joan R. Coates, Leslie A. Lyons, Robert A. Grahn, John R. Middleton, Barbara Gandolfi, N.A. Villani, Derek B. Fox, Michael J. Hamilton, S.T. Sellers, Lisa G. Britt, Reuben M. Buckley, Kari L. Chesney, S. Pfleuger
Despite the contribution of a few major genes for disproportionate dwarfism in humans, many dwarf patients are yet genetically undiagnosed. In domestic cats, disproportionate dwarfism has led to the development of a defined breed, the Munchkin or Min
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a067509764929886d249bd7b3b817c4
https://doi.org/10.1101/687210
https://doi.org/10.1101/687210
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Priscila Cardim de Oliveira, Julio Israel Fernandes, Rafaela Bruno Faria Pisani, Isabela Pessôa Barbieri Bastos
Publikováno v:
Brazilian Journal of Veterinary Medicine, Vol 39, Iss 04, Pp 279-283 (2018)
O hipotireoidismo congênito canino é um distúrbio endócrino raro e subdiagnosticado. Sua verdadeira incidência é desconhecida, pois muitos cães com esta anomalia morrem antes de completarem três meses de idade. Por atuar em diversos órgãos,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ee8fd95b42c98541b5a5aaa0a9c84e3
https://doi.org/10.29374/2527-2179.bjvm020817
https://doi.org/10.29374/2527-2179.bjvm020817