Work

In‐frame multi‐exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome

Year: 2011

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.34360

Authors: Nicole Hoppman‐Chaney, Jin Sung Jang, Jin Jen, Dusica Babovic‐Vuksanovic, Jennelle C. Hodge

Institution: Mayo Clinic

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: closed

OpenAlex ID: W2086335660

FWCI: 1.397

Cites: 11

Cited by: 25

Related to: 10