PubMed (Bookshelf cited) for id: 67391

Year	Number of Results
1974	1
1986	1
1991	1
1996	1
1997	1
1998	2
2002	1
2005	3
2006	2
2007	1
2008	1
2009	3
2010	2
2011	1
2014	2
2015	3
2016	1
2017	2
2018	1
2019	2
2020	1
2024	0

1

A clinical scoring system for congenital contractural arachnodactyly.

Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B. Meerschaut I, et al. Genet Med. 2020 Jan;22(1):124-131. doi: 10.1038/s41436-019-0609-8. Epub 2019 Jul 18. Genet Med. 2020. PMID: 31316167 Free article.

2

Persistent great artery dilatation in Beals syndrome: A novel finding.

Siddiqui S, Panesar L. Siddiqui S, et al. Ann Pediatr Cardiol. 2019 May-Aug;12(2):150-152. doi: 10.4103/apc.APC_8_19. Ann Pediatr Cardiol. 2019. PMID: 31143044 Free PMC article.

3

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.

Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Adès LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay ME, Morisaki H, Morisaki T, Pachter N, Robert L, Van Laer L, Dietz HC, Loeys BL, Milewicz DM, De Backer J. Renard M, et al. J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089. J Am Coll Cardiol. 2018. PMID: 30071989 Free PMC article.

4

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

Lavillaureix A, Heide S, Chantot-Bastaraud S, Marey I, Keren B, Grigorescu R, Jouannic JM, Gelot A, Whalen S, Héron D, Siffroi JP. Lavillaureix A, et al. Clin Genet. 2017 Nov;92(5):556-558. doi: 10.1111/cge.13062. Epub 2017 Aug 1. Clin Genet. 2017. PMID: 28762477 Free article. No abstract available.

5

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.

Monies D, Maddirevula S, Kurdi W, Alanazy MH, Alkhalidi H, Al-Owain M, Sulaiman RA, Faqeih E, Goljan E, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Shaheen R, Arold ST, Alkuraya FS. Monies D, et al. Genet Med. 2017 Oct;19(10):1144-1150. doi: 10.1038/gim.2017.22. Epub 2017 Apr 6. Genet Med. 2017. PMID: 28383543 Free article.

6

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly.

Guo X, Song C, Shi Y, Li H, Meng W, Yuan Q, Xue J, Xie J, Liang Y, Yuan Y, Yu B, Wang H, Chen Y, Qi L, Li X. Guo X, et al. BMC Med Genet. 2016 Dec 3;17(1):91. doi: 10.1186/s12881-016-0355-6. BMC Med Genet. 2016. PMID: 27912749 Free PMC article.

7

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene.

Mehar V, Yadav D, Kumar R, Yadav S, Singh K, Callewaert B, Pathan S, De Paepe A, Coucke PJ. Mehar V, et al. J Pediatr Genet. 2014 Sep;3(3):163-6. doi: 10.3233/PGE-14093. J Pediatr Genet. 2014. PMID: 27625873 Free PMC article.

8

Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature.

Takeda N, Morita H, Fujita D, Inuzuka R, Taniguchi Y, Imai Y, Hirata Y, Komuro I. Takeda N, et al. Am J Med Genet A. 2015 Oct;167A(10):2382-7. doi: 10.1002/ajmg.a.37162. Epub 2015 May 14. Am J Med Genet A. 2015. PMID: 25975422

9

A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.

Liu W, Zhao N, Li XF, Wang H, Sui Y, Lu YP, Feng WH, Ma C, Han WT, Jiang M. Liu W, et al. FEBS Open Bio. 2015 Mar 5;5:163-6. doi: 10.1016/j.fob.2015.02.005. eCollection 2015. FEBS Open Bio. 2015. PMID: 25834781 Free PMC article.

10

Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report.

Meena JP, Gupta A, Mishra D, Juneja M. Meena JP, et al. J Pediatr Orthop B. 2015 May;24(3):226-9. doi: 10.1097/BPB.0000000000000121. J Pediatr Orthop B. 2015. PMID: 25493702

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