Work

Clinical, cytogenetic, and molecular evidence for an infant with Smith–Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

Year: 1993

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics

DOI: 10.1002/ajmg.1320470414

Authors: Roberto T. Zori, James R. Lupski, Zhang Heju, Frank Greenberg, James M. Killian, Brian A. Gray, Daniel J. Driscoll, Pragna I. Patel, Joleen L. Zackowski

Institutions: University of Florida, Baylor College of Medicine, Texas Children's Hospital, Eastern Virginia Medical School

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

Funders: National Institutes of Health, National Center for Research Resources, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G2666781654, General Clinical Research Center, G71706220, MOLECULAR GENETICS OF DELL7PLL.2 MICRODELETION SYNDROME

OpenAlex ID: W1995610993

FWCI: 2.915

Cites: 37

Cited by: 89

Related to: 10