Work

eP097: The utility of CSF-derived cell free DNA in molecular diagnostics for the Megalencephaly-capillary Malformation (MCAP) syndrome: A case report

Year: 2022

Type: article

Study design: Case Report

Source: Genetics in Medicine

DOI: 10.1016/j.gim.2022.01.134

Authors: Wei-Liang Chen, Andrew Timms, Emily Pao, James Owens, Ian Glass, Brian Shirts, Colin Pritchard, Christina Lockwood, Ghayda Mirzaa

Institutions: Seattle Children's Hospital, University of Washington, Seattle Children's Research Institute

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4293229775

FWCI: 0.151

Cites:

Cited by: 1

Related to: 10