Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jéssica K. Hartmann"'
Autor:
Desirée Deconte, Bruna Lixinski Diniz, Jéssica K. Hartmann, Mateus A. de Souza, Laira F. F. Zottis, Paulo Ricardo Gazzola Zen, Rafael F. M. Rosa, Marilu Fiegenbaum
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 14, p 7900 (2024)
KIAA0586 variants have been associated with a wide range of ciliopathies, mainly Joubert syndrome (JS, OMIM #616490) and short-rib thoracic dysplasia syndrome (SRTD, OMIM #616546). However, the hypothesis that this gene is involved with hydrolethalus
Externí odkaz:
https://doaj.org/article/30c6be50e15242da98d16066c3545f41
Autor:
Paulo Ricardo Gazzola Zen, Thiago K. K. Gama, Rafael Fabiano Machado Rosa, Mateus A. de Souza, Jéssica K. Hartmann, Ernani Bohrer da Rosa, Laira F. F. Zottis
Publikováno v:
Journal of Pediatric Genetics.
Mosaic trisomy 8 is a condition characterized by a great phenotypic and cytogenetic variability whose incidence ranges around 1 in 25,000 to 50,000 live births. Here, we report a mosaic trisomy 8 patient presenting laryngotracheomalacia, an uncommon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa9008c3997d1f7ef8683de61114e059
https://doi.org/10.1055/s-0041-1736609
https://doi.org/10.1055/s-0041-1736609