Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes-Reference-Cited by-同舟云学术

Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes

Published:2018-01-31 Issue:3 Volume:176 Page:739-742
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Nagasaki Keisuke¹^ORCID,Nishimura Gen²,Kikuchi Toru³,Nyuzuki Hiromi¹,Sasaki Sunao¹,Ogawa Yohei¹,Saitoh Akihiko¹

Affiliation:

1. Division of Pediatrics, Department of Homeostatic Regulation and Development; Niigata University Graduate School of Medical and Dental Sciences; Niigata Japan

2. Intractable Disease Center; Saitama Medical University Hospital; Saitama Japan

3. Department of Pediatrics; Saitama Medical University; Saitama Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38623/fullpdf

Reference12 articles.

1. Omodysplasia: The first reported Brazilian case;Albano;Clinics (Sao Paulo),2007

2. Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome;Bunn;Journal of Human Genetics,2015

3. Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia;Campos-Xavier;American Journal of Human Genetics,2009

4. Recessive omodysplasia: Five new cases and review of the literature;Elçioglu;Pediatric Radiology,2004

5. Omodysplasia;Maroteaux;American Journal of Medical Genetics,1989

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