Literature DB >> 2801774

Nager acrofacial dysostosis: autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son.

B D Hall1.   

Abstract

A mild to moderately affected mother with Nager acrofacial dysostosis produced a severely affected phocomelic son. This apparent autosomal dominant transmission and the extreme variability dictates a reassessment of the genetics of Nager acrofacial dysostosis.

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Mesh：

Year:  1989        PMID： 2801774     DOI： 10.1002/ajmg.1320330321

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


  8 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

Review 2.  Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.

Authors:  Karla Terrazas; Jill Dixon; Paul A Trainor; Michael J Dixon
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2017-02-10       Impact factor: 5.814

3.  A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.

Authors:  Matteo Cassina; Cristina Cerqua; Silvia Rossi; Leonardo Salviati; Alessandro Martini; Maurizio Clementi; Eva Trevisson
Journal:  Eur J Hum Genet       Date:  2016-12-14       Impact factor: 4.246

4.  Synchronous Bilateral Breast Cancer in a Patient With Nager Syndrome.

Authors:  Ryan A Denu; Mark E Burkard
Journal:  Clin Breast Cancer       Date:  2017-01-05       Impact factor: 3.225

Review 5.  Nager acrofacial dysostosis.

Authors:  M T McDonald; J L Gorski
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

6.  Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome.

Authors:  Arun Devotta; Hugo Juraver-Geslin; Jose Antonio Gonzalez; Chang-Soo Hong; Jean-Pierre Saint-Jeannet
Journal:  Dev Biol       Date:  2016-02-11       Impact factor: 3.582

7.  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

8.  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
  8 in total

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