Literature DB >> 3993671

An unusual distal arthrogryposis.

E L Kawira, H A Bender.   

Abstract

We report on a mother and her dizygotic twin fetuses who were affected with distal arthrogryposis. In addition the mother has cervical vertebral anomalies, scoliosis, short stature, nuchal and axillary pterygia, and unusual facial appearance. The fetuses had a short neck, pterygium colli, retrognathia, and mild apparent scoliosis. We think that these three individuals have a previously undescribed type of distal arthrogryposis.

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Year:  1985        PMID： 3993671     DOI： 10.1002/ajmg.1320200302

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

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Authors:  P A Krakowiak; J R O'Quinn; J F Bohnsack; W S Watkins; J C Carey; L B Jorde; M Bamshad
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

2.  Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Authors:  Jessica X Chong; Lindsay C Burrage; Anita E Beck; Colby T Marvin; Margaret J McMillin; Kathryn M Shively; Tanya M Harrell; Kati J Buckingham; Carlos A Bacino; Mahim Jain; Yasemin Alanay; Susan A Berry; John C Carey; Richard A Gibbs; Brendan H Lee; Deborah Krakow; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2015-05-07       Impact factor: 11.025

3.  Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Authors:  Yavuz Bayram; Ender Karaca; Zeynep Coban Akdemir; Elif Ozdamar Yilmaz; Gulsen Akay Tayfun; Hatip Aydin; Deniz Torun; Sevcan Tug Bozdogan; Alper Gezdirici; Sedat Isikay; Mehmed M Atik; Tomasz Gambin; Tamar Harel; Ayman W El-Hattab; Wu-Lin Charng; Davut Pehlivan; Shalini N Jhangiani; Donna M Muzny; Ali Karaman; Tamer Celik; Ozge Ozalp Yuregir; Timur Yildirim; Ilhan A Bayhan; Eric Boerwinkle; Richard A Gibbs; Nursel Elcioglu; Beyhan Tuysuz; James R Lupski
Journal:  J Clin Invest       Date:  2016-01-11       Impact factor: 14.808

4.  Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

Authors:  Raphael Carapito; Alice Goldenberg; Nicodème Paul; Angélique Pichot; Albert David; Antoine Hamel; Clémentine Dumant-Forest; Julien Leroux; Benjamin Ory; Bertrand Isidor; Seiamak Bahram
Journal:  Eur J Hum Genet       Date:  2016-07-06       Impact factor: 4.246

5.  Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).

Authors:  Jing Zhang; Wen-Qi Chen; Si-Wen Wang; Shao-Xiong Wang; Mei Yu; Qing Guo; Ya-Dong Yu
Journal:  Mol Genet Genomic Med       Date:  2020-08-07       Impact factor: 2.183
  5 in total

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