Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Síndrome de Coffin-Siris"'
Autor:
Murilo Henrique Vieira, VANESSA CATTO GRITTI, Maria Aparecida Marques Habermann, Viviane Dorgievicz, Emyr Hiago Bellaver
Publikováno v:
Research, Society and Development; Vol. 11 No. 15; e467111537637
Research, Society and Development; Vol. 11 Núm. 15; e467111537637
Research, Society and Development; v. 11 n. 15; e467111537637
Research, Society and Development
Universidade Federal de Itajubá (UNIFEI)
instacron:UNIFEI
Research, Society and Development; Vol. 11 Núm. 15; e467111537637
Research, Society and Development; v. 11 n. 15; e467111537637
Research, Society and Development
Universidade Federal de Itajubá (UNIFEI)
instacron:UNIFEI
A síndrome de Coffin-Siris é uma condição genética causada por mutações em genes que são responsáveis pela codificação de componentes do complexo BAF, causando hipoplasia ou aplasia da falange do quinto dedo, aparência facial grosseira, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e9e3c2b9aa409160c9bb63b2658f714
https://rsdjournal.org/index.php/rsd/article/view/37637
https://rsdjournal.org/index.php/rsd/article/view/37637
Autor:
Mendioroz, J, Bermejo, E, López-Grondona, F, Felix Rodríguez, V, Valdivia, L, Rosa, A, Blanco, M, Sanchis, A, Centeno, F, Espinosa Pérez, MJ, Ayala, A, Pérez, JL., Mousallem, D, Burón Martínez, E, Vázquez García, MS, Rodríguez-Pinilla, E, Martínez-Frías, ML
Publikováno v:
Repisalud
Instituto de Salud Carlos III (ISCIII)
Instituto de Salud Carlos III (ISCIII)
Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMC In an attempt to facilitate the knowledge of the malformation syndromes that have very few frequencies to pediatricians and first health care physicians, parti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6ec13c76978e57c147e9739e3f424c6e
https://hdl.handle.net/20.500.12105/13697
https://hdl.handle.net/20.500.12105/13697