Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mari Mällo"'
Autor:
Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesit
Externí odkaz:
https://doaj.org/article/430cf243a6be4a2283a903b579084f56
Autor:
Simone Bressan, Leonardo Gatticchi, Paolo Enrico Maltese, Leonardo Colombo, Ludmila Podracká, Vanda Rísová, Luca De Antoni, Kaie Jaakson, Mari Mällo, Jan Miertus, Lucia Piteková, Matteo Bertelli, Kairit Joost
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insuli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a273267c60b6b6aad98a1b48480f8afd
http://europepmc.org/articles/PMC7460749
http://europepmc.org/articles/PMC7460749