Biallelic loss‐of‐function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome-Reference-Cited by-同舟云学术

Biallelic loss‐of‐function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome

Published:2018-03-25 Issue:4 Volume:176 Page:1030-1036
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Birgmeier Johannes¹,Esplin Edward D.²^ORCID,Jagadeesh Karthik A.¹,Guturu Harendra³,Wenger Aaron M.³,Chaib Hassan²⁴,Buckingham Julia A.³,Bejerano Gill¹³⁵^ORCID,Bernstein Jonathan A.³

Affiliation:

1. Department of Computer ScienceStanford University, Stanford California

2. Department of GeneticsStanford University School of Medicine, Stanford California

3. Department of PediatricsStanford University School of Medicine, Stanford California

4. Stanford Center for Genomics and Personalized MedicineStanford University, Stanford California

5. Department of Developmental BiologyStanford University, Stanford California

Funder

Directorate for Biological Sciences

Defense Advanced Research Projects Agency

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38636

Reference36 articles.

1. A global reference for human genetic variation

2. One gene, two phenotypes:ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B

3. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

4. Broad Institute Picard Tools. (2017). Picard tools – By broad institute.http://broadinstitute.github.io/picard

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