Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome (Q28265479)

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30 January 2020

title

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome (English)

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A. Micheil Innes

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Oana Caluseriu

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FORGE Canada Consortium

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Jillian S Parboosingh

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Jillian S Parboosingh

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Francois P Bernier

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Michael J Bamshad

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author name string

Sarah Ng

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Jeffrey W Innis

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Jane L Schuette

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Jerome L Gorski

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Gregor Andelfinger

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Victoria Siu

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Julie Lauzon

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Bridget A Fernandez

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Margaret McMillin

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Richard H Scott

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Hilary Racher

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language of work or name

English

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publication date

26 April 2012

1 reference

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American Journal of Human Genetics

30 January 2020

published in

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volume

90

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page(s)

925-933

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issue

5

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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

30 January 2020

cites work

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20 March 2017

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Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor

20 March 2017

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A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

20 March 2017

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20 March 2017

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Mammalian polycomb-mediated repression of Hox genes requires the essential spliceosomal protein Sf3b1

20 March 2017

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Temporomandibular joint replacement for ankylosis correction in Nager syndrome: case report and review of the literature

29 September 2017

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A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa

29 September 2017

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Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs

29 September 2017

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Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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Autosomal recessive inheritance of Nager acrofacial dysostosis

29 September 2017

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29 September 2017

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Postaxial acrofacial dysostosis syndrome

29 September 2017

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Developmental expression of the murine spliceosome-associated protein mSAP49.

29 September 2017

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

2 June 2018

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2 June 2018

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Acrofacial dysostoses

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Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome.

2 June 2018

1 reference

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

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22541558

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Deletion of 1q in a patient with acrofacial dysostosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22541558

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.04.004

2 references

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30 January 2020

1 reference

2 references

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30 January 2020

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