Work

5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease

Year: 2016

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.37472

Authors: Rita Ilari, Guillermo Agosta, Carlos Bacino

Institutions: Hospital Italiano de Buenos Aires, Baylor College of Medicine

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2249064244

FWCI: 1.471

Cites: 19

Cited by: 11

Related to: 10