Zobrazeno 1 - 3
of 3
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
Autor:
Gatticchi, Leonardo1 (AUTHOR), Miertus, Jan2,3 (AUTHOR), Maltese, Paolo Enrico3 (AUTHOR) paolo.maltese@assomagi.org, Bressan, Simone3 (AUTHOR), De Antoni, Luca4 (AUTHOR), Podracká, Ludmila5 (AUTHOR), Piteková, Lucia5 (AUTHOR), Rísová, Vanda6 (AUTHOR), Mällo, Mari7 (AUTHOR), Jaakson, Kaie7 (AUTHOR), Joost, Kairit7 (AUTHOR), Colombo, Leonardo8 (AUTHOR), Bertelli, Matteo3,4 (AUTHOR)
Publikováno v:
BMC Medical Genetics. 9/1/2020, Vol. 21 Issue 1, pN.PAG-N.PAG. 1p.