Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies-Reference-Cited by-同舟云学术

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies

Published:2017-11-06 Issue:1 Volume:39 Page:152-166
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zhang Wenjuan¹,Taylor S. Paige²,Ennis Hayley A.¹,Forlenza Kimberly N.³,Duran Ivan³⁴,Li Bing¹,Sanchez Jorge A. Ortiz¹,Nevarez Lisette¹,Nickerson Deborah A.⁵⁶,Bamshad Michael⁵⁶⁷⁸,Lachman Ralph S.⁹,Krakow Deborah²³⁹¹⁰,Cohn Daniel H.¹³⁹^ORCID,

Affiliation:

1. Department of Molecular, Cell, and Developmental Biology, University of California at Los Angeles; Los Angeles California

2. Department of Human Genetics; David Geffen School of Medicine at the University of California at Los Angeles; Los Angeles California

3. Department of Orthopaedic Surgery; David Geffen School of Medicine at the University of California at Los Angeles; Los Angeles California

4. Networking Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN); University of Malaga, Malaga; Spain

5. Department of Genome Sciences; University of Washington; Seattle Washington

6. University of Washington Center for Mendelian Genomics; University of Washington; Seattle Washington

7. Department of Pediatrics, University of Washington; Seattle Washington

8. Division of Genetic Medicine; Seattle Children's Hospital; Seattle Washington

9. International Skeletal Dysplasia Registry at UCLA; Los Angeles California

10. Department of Obstetrics and Gynecology, David Geffen School of Medicine at the University of California at Los Angeles; Los Angeles California

Funder

National Institute of Dental and Craniofacial Research

National Institute of Arthritis and Musculoskeletal and Skin Diseases

National Institutes of Health

Genomic Analysis and Interpretation

National Human Genome Research Institute

National Heart, Lung, and Blood Institute

Center for Scientific Review

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23362/fullpdf

Reference94 articles.

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2. Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome;Alby;American Journal of Human Genetics,2015

3. Primary cilia: Cellular sensors for the skeleton;Anderson;Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology,2008

4. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome;Arts;Journal of Medical Genetics,2011

5. The ciliopathies: An emerging class of human genetic disorders;Badano;Annual Review of Genomics and Human Genetics,2006

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