X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation - 2019
X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation
Milovidova, Tatiana; Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”
Schagina, Olga; Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Moscow, Russia
Freire Chadrina, Maria ; Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Moscow, Russia
Demina, N; Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Moscow, Russia
Filatova, Alexandra; Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Moscow, Russia
Skoblov, Mikhail; Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Moscow, Russia
Stepanova, A; Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Moscow, Russia
Chuhrova, A; Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Moscow, Russia
Polyakov, A; Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Moscow, Russia
Langue du document :
Anglais
Titre :
X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation
Date de publication/diffusion :
15 juillet 2019
Titre du périodique :
Journal of the European Academy of Dermatology and Venereology
ISSN :
0926-9959
eISSN :
1468-3083
Maison d'édition :
Wiley, Oxford, Royaume-Uni
Volume/Tome :
33
Fascicule/Saison :
12
Pagination :
e468-e470
Peer reviewed :
Peer reviewed vérifié par ORBi
Organisme subsidiant :
The research was carried out within the state assignment of FASO Russia
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