Work

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

Year: 2018

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.38636

Authors: Johannes Birgmeier, Edward D. Esplin, Karthik A. Jagadeesh, Harendra Guturu, Aaron M. Wenger, Hassan Chaib, Julia A. Buckingham, Gill Bejerano, Jonathan A. Bernstein

Institutions: Stanford University, Stanford Medicine

Language: English

Topic: Congenital limb and hand anomalies

Subfield: Developmental Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Directorate for Biological Sciences, Defense Advanced Research Projects Agency

OpenAlex ID: W2795804945

FWCI: 1.548

Cites: 34

Cited by: 14

Related to: 10