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Results for
""Arachnodactyly""[mesh_terms]

6 Results

Searching titles within these results

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

Jingjing Xiao, Qiongfen Lin, Yi Guo, Zhijian Yang, Lamei Yuan, Xiong Deng, Hongbo Xu, Qian Lu, Hao Deng, Liping Guan, Zhi Song

PloS one 2017;11(5):e0155908

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Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.

Elisa Docampo, Camille Chatelain, Léna Kukor, Sophie Bailleux, Vincent Bours, Saskia Bulk

European journal of medical genetics 2025;73():104985

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A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.

Pauline Arnaud, Caroline Racine, Nadine Hanna, Julien Thevenon, Jean-Luc Alessandri, Dominique Bonneau, Jill Clayton-Smith, Christine Coubes, Bruno Delobel, Sophie Dupuis-Girod, Laurent Gouya, Sylvie Odent, Virginie Carmignac, Christel Thauvin-Robinet, Carine Le Goff, Guillaume Jondeau, Catherine Boileau, Laurence Faivre

Human genetics 2020;139(4):461-472

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De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

P Y Billie Au, Hilary E Racher, John M Graham, Nancy Kramer, R Brian Lowry, Jillian S Parboosingh, A Micheil Innes

American journal of medical genetics. Part A 2014;164A(3):676-84

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Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.

Timothy E Paterick, Julie A Humphries, Khawaja Afzal Ammar, M Fuad Jan, Rachel Loberg, Michelle Bush, Bijoy K Khandheria, A Jamil Tajik

The American journal of medicine 2013;126(8):670-8

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Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.

Abeer M Miqdad, Mohammed Zain Seidahmed, Sateesh Maddirevula, Abdullah Al Faifi, Abdulmohsen Al Samadi, Fowzan S Alkuraya

American journal of medical genetics. Part A 2021;185(3):945-948

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Results: 1 – 6 / 6

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Results for ""Arachnodactyly""[mesh_terms]

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.

Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.

Results for
""Arachnodactyly""[mesh_terms]