A homozygous nonsense variant inIFT52is associated with a human skeletal ciliopathy-Reference-Cited by-同舟云学术

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A homozygous nonsense variant inIFT52is associated with a human skeletal ciliopathy

Published:2016-03-15 Issue:6 Volume:90 Page:536-539
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Girisha K. M.¹^ORCID,Shukla A.¹,Trujillano D.²,Bhavani G. S.¹,Hebbar M.¹,Kadavigere R.³,Rolfs A.²⁴

Affiliation:

1. Department of Medical Genetics, Kasturba Medical College; Manipal University; Manipal India

2. Department of Bioinformatics; Centogene AG; Rostock Germany

3. Department of Radiodiagnosis and Imaging, Kasturba Medical College; Manipal University; Manipal India

4. Albrecht-Kossel-Institute for Neuroregeneration; Medical University Rostock; Rostock Germany

Funder

Department of Science and Technology, Government of Kerala

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12762/fullpdf

Reference10 articles.

1. Ciliopathies;Hildebrandt;N Engl J Med,2011

2. Clinical genetics and pathobiology of ciliary chondrodysplasias;Schmidts;J Pediatr Genet,2014

3. IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype;Perrault;J Med Genet,2015

4. 4.2 the CDC and euro growth charts;Ziegler;World Rev Nutr Diet,2015

5. Nosology and classification of genetic skeletal disorders: 2015 revision;Bonafe;Am J Med Genet A,2015

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