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Literature DB >> 6837625

Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes.

F Halal, J Herrmann, P D Pallister, J M Opitz, M F Desgranges, G Grenier.

Abstract

Entities: Disease Species

Mesh：

Year: 1983 PMID： 6837625 DOI： 10.1002/ajmg.1320140203

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

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11 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. Autosomal recessive inheritance of Nager acrofacial dysostosis.

Authors: J Chemke; B M Mogilner; I Ben-Itzhak; L Zurkowski; D Ophir
Journal: J Med Genet Date: 1988-04 Impact factor: 6.318

3. Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst.

Authors: R Gershoni-Baruch; I Machoul; Y Weiss; S Blazer
Journal: J Med Genet Date: 1990-06 Impact factor: 6.318

Review 4. Nager acrofacial dysostosis.

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

5. The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot.

Authors: E Thompson; R Cadbury; M Baraitser
Journal: J Med Genet Date: 1985-10 Impact factor: 6.318

6. 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

7. 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