Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort-Reference-Cited by-同舟云学术

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort

Published:2022-05 Issue:5 Volume:24 Page:1045-1053
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Meester Josephina A.N.^ORCID,Peeters Silke,Van Den Heuvel Lotte,Vandeweyer Geert,Fransen Erik,Cappella Elizabeth,Dietz Harry C.,Forbus Geoffrey,Gelb Bruce D.,Goldmuntz Elizabeth,Hoskoppal Arvind,Landstrom Andrew P.,Lee Teresa,Mital Seema,Morris Shaine,Olson Aaron K.,Renard Marjolijn,Roden Dan M.,Singh Michael N.,Selamet Tierney Elif Seda,Tretter Justin T.,Van Driest Sara L.,Willing Marcia,Verstraeten Aline,Van Laer Lut,Lacro Ronald V.,Loeys Bart L.

Publisher

Elsevier BV

Subject

Genetics (clinical)

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5. Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome;Mátyás;Hum Genet,2007

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