Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome-Reference-Cited by-同舟云学术

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Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome

Published:2013-08-02 Issue:9 Volume:161 Page:2311-2315
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Nur Banu Guzel¹,Bernier Francois P.²,Oztekin Osman³,Kardelen Fırat⁴,Kalay Salih³,Parboosingh Jillian S.²,Mihci Ercan¹

Affiliation:

1. Department of Pediatric Genetics; Akdeniz University School of Medicine; Antalya Turkey

2. Department of Medical Genetics; University of Calgary; Calgary Alberta Canada

3. Department of Pediatric Neonatology; Akdeniz University School of Medicine; Antalya Turkey

4. Department of Pediatric Cardiology; Akdeniz University School of Medicine; Antalya Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36051/fullpdf

Reference18 articles.

1. Nager acrofacial dysostosis: Male-to-male transmission in 2 families;Aylsworth;Am J Med Genet,1991

2. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome;Bernier;Am J Hum Genet,2012

3. Autosomal recessive inheritance of Nager acrofacial dysostosis;Chemke;J Med Genet,1988

4. Richieri-Costa-Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases;Favaro;Am J Med Genet Part A,2011

5. Differential diagnosis of Nager acrofacial dysostosis syndrome: Report of four patients with Nager syndrome and discussion of other related syndrome;Halal;Am J Med Genet,1983

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. SF3B4 Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome;The Cleft Palate-Craniofacial Journal;2022-03-25

2. Molecular mechanisms of hearing loss in Nager syndrome;Developmental Biology;2021-08

3. Spliceosomopathies and neurocristopathies: Two sides of the same coin?;Developmental Dynamics;2020-05-21

4. Nager syndrome;ANASTH INTENSIVMED;2019

5. Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses;WIREs Developmental Biology;2017-02-10

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