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Clinical and genetic characteristics of rare variants of acromelic skeletal dysplasias caused by mutations in the <i>FBN1</i> gene
Author(s) -
Т. В. Маркова,
Маркова Татьяна Владимировна,
Vladimir Kenis,
Кенис Владимир Маркович,
Evgenii V. Melchenko,
Мельченко Евгений Викторович,
Т. С. Нагорнова,
Нагорнова Татьяна Сергеевна,
Aysylu Murtazina,
Муртазина Айсылу Фанзировна,
Е. Л. Дадали,
Дадали Елена Леонидовна
Publication year - 2021
Publication title -
ortopediâ, travmatologiâ i vosstanovitelʹnaâ hirurgiâ detskogo vozrasta
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.157
H-Index - 4
eISSN - 2410-8731
pISSN - 2309-3994
DOI - 10.17816/ptors65367
Subject(s) - missense mutation , dysplasia , genetics , exon , mutation , gene , phenotype , biology , gene mutation , medicine

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