Work

EP300 ‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients

Year: 2020

Type: article

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.61883

Authors: Jennifer L. Cohen, Samantha A. Schrier Vergano, Sarah Mazzola, Alanna Strong, Beth Keena, Carey McDougall, Alyssa Ritter, Dong Li, Emma C. Bedoukian, Leah W. Burke, Amber Hoffman, Victoria Zurcher, Ian D. Krantz, Kosuke Izumi, Elizabeth Bhoj, Elaine H. Zackai, Matthew A. Deardorff

Institutions: Children's Hospital of Philadelphia, Duke University, Duke Medical Center, University of Pennsylvania, Children's Hospital of The King's Daughters, Cleveland Clinic, University of Vermont, Nemours Children's Health System, Children's Hospital of Pittsburgh, University of Southern California, Children's Hospital Los Angeles

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

OpenAlex ID: W3092294801

FWCI: 3.293

Cites: 26

Cited by: 36

Related to: 10