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Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly
Author(s) -
Lavillaureix A.,
Heide S.,
ChantotBastaraud S.,
Marey I.,
Keren B.,
Grigorescu R.,
Jouannic J.M.,
Gelot A.,
Whalen S.,
Héron D.,
Siffroi J.P.
Publication year - 2017
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13062
Subject(s) - arachnodactyly , genetics , mosaic , biology , medicine , marfan syndrome , art , visual arts