Literature DB >> 3425605

Nager "syndrome" versus "anomaly" and its nosology with the postaxial acrofacial dysostosis syndrome of Genée and Wiedemann.

J M Opitz1.   

Abstract

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Year:  1987        PMID： 3425605     DOI： 10.1002/ajmg.1320270425

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


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  6 in total

Review 1.  Facial dysostoses: Etiology, pathogenesis and management.

Authors:  Paul A Trainor; Brian T Andrews
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

2.  Prenatal diagnosis of Nager syndrome in the third trimester of pregnancy and anatomopathological correlation.

Authors:  Lívia Teresa Moreira Rios; Edward Araujo Júnior; Luciano Marcondes Machado Nardozza; Rafael Frederico Bruns; Antonio Fernandes Moron; Marília da Glória Martins
Journal:  J Med Ultrason (2001)       Date:  2012-05-25       Impact factor: 1.314

3.  A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.

Authors:  Marco Castori; Irene Bottillo; Daniela D'Angelantonio; Silvia Morlino; Carmelilia De Bernardo; Giovanna Scassellati Sforzolini; Evelina Silvestri; Paola Grammatico
Journal:  Mol Syndromol       Date:  2014-08-05

4.  Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Authors:  Francois P Bernier; Oana Caluseriu; Sarah Ng; Jeremy Schwartzentruber; Kati J Buckingham; A Micheil Innes; Ethylin Wang Jabs; Jeffrey W Innis; Jane L Schuette; Jerome L Gorski; Peter H Byers; Gregor Andelfinger; Victoria Siu; Julie Lauzon; Bridget A Fernandez; Margaret McMillin; Richard H Scott; Hilary Racher; Jacek Majewski; Deborah A Nickerson; Jay Shendure; Michael J Bamshad; Jillian S Parboosingh
Journal:  Am J Hum Genet       Date:  2012-04-26       Impact factor: 11.025

5.  A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Alexander Krebs; Franz Grill
Journal:  Cases J       Date:  2008-10-24

6.  Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.

Authors:  Ewelina Bukowska-Olech; Anna Materna-Kiryluk; Joanna Walczak-Sztulpa; Delfina Popiel; Magdalena Badura-Stronka; Grzegorz Koczyk; Adam Dawidziuk; Aleksander Jamsheer
Journal:  Front Genet       Date:  2020-11-11       Impact factor: 4.599
  6 in total

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