Work

A novel GNAS variant presents with disorders of GNAS inactivation and cardiomyopathy

Year: 2022

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.62726

Authors: Emily Shelkowitz, Christine M. Chan, Tonya Jones, Stephanie J. Nakano, Naomi J. L. Meeks

Institutions: University of Colorado Anschutz, Saint Francis Hospital, Saint Francis Health System

Language: English

Topic: Genetic Syndromes and Imprinting

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4220658627

FWCI: 0.301

Cites: 23

Cited by: 2

Related to: 10