Literature DB >> 23278365

Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

J Hogue1, C Lee, A Jelin, M N Strecker, V A Cox, A M Slavotinek.   

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Year:  2012        PMID： 23278365     DOI： 10.1111/cge.12073

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.

Authors:  Shalini S Nayak; Pauline E Schneeberger; Siddaramappa J Patil; Karegowda M Arun; Pujar V Suresh; Viralam S Kiran; Sateesh Siddaiah; Shreesha Maiya; Shrikanth K Venkatachalagupta; Neethukrishna Kausthubham; Fanny Kortüm; Isabella Rau; Alexandra Wey-Fabrizius; Lotte Van Den Heuvel; Josephina Meester; Lut Van Laer; Anju Shukla; Bart Loeys; Katta M Girisha; Kerstin Kutsche
Journal:  Sci Rep       Date:  2021-01-12       Impact factor: 4.379

2.  New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Authors:  Ren-Qiang Yang; Javad Jabbari; Xiao-Shu Cheng; Reza Jabbari; Jonas B Nielsen; Bjarke Risgaard; Xu Chen; Ahmad Sajadieh; Stig Haunsø; Jesper Hastrup Svendsen; Morten S Olesen; Jacob Tfelt-Hansen
Journal:  BMC Genet       Date:  2014-06-18       Impact factor: 2.797

3.  Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.

Authors:  Eline Overwater; Rifka Efrat; Daniela Q C M Barge-Schaapveld; Phillis Lakeman; Marjan M Weiss; Alessandra Maugeri; J Peter van Tintelen; Arjan C Houweling
Journal:  Mol Genet Genomic Med       Date:  2018-11-28       Impact factor: 2.183
  3 in total

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