A clinical scoring system for congenital contractural arachnodactyly-Reference-Cited by-同舟云学术

A clinical scoring system for congenital contractural arachnodactyly

Published:2020-01 Issue:1 Volume:22 Page:124-131
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Meerschaut Ilse^ORCID,De Coninck Shana,Steyaert Wouter,Barnicoat Angela,Bayat Allan,Benedicenti Francesco,Berland Siren^ORCID,Blair Edward M.,Breckpot Jeroen,de Burca Anna,Destrée Anne,García-Miñaúr Sixto,Green Andrew J.,Hanna Bernadette C.,Keymolen Kathelijn,Koopmans Marije,Lederer Damien,Lees Melissa^ORCID,Longman Cheryl,Lynch Sally Ann,Male Alison M.^ORCID,McKenzie Fiona,Migeotte Isabelle,Mihci Ercan^ORCID,Nur Banu,Petit Florence^ORCID,Piard Juliette,Plasschaert Frank S.,Rauch Anita,Ribaï Pascale,Pacheco Iratxe Salcedo,Stanzial Franco,Stolte-Dijkstra Irene,Valenzuela Irene,Varghese Vinod,Vasudevan Pradeep C.,Wakeling Emma^ORCID,Wallgren-Pettersson Carina,Coucke Paul,De Paepe Anne,De Wolf Daniël,Symoens Sofie,Callewaert Bert

Funder

Universitair Ziekenhuis Gent

Ghent University

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-019-0609-8.pdf

Reference37 articles.

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families;Molecular Genetics and Metabolism Reports;2024-12

2. FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations;Connective Tissue Research;2024-04-11

3. A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum;Genes;2024-01-19

4. Case Report: Transcatheter treatment of aortic coarctation in a 58-year-old patient with LACHT syndrome and left lung agenesis;Frontiers in Cardiovascular Medicine;2023-11-30

5. Two cases of Birt-Hogg-Dubé syndrome combined with congenital contractural arachnodactyly;Quantitative Imaging in Medicine and Surgery;2023-05