Work

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

Year: 2003

Type: article

Study design: Observational Study

Source: Genetics in Medicine

DOI: 10.1097/01.gim.0000095625.14160.ab

Authors: Lorraine Potocki, Christine J. Shaw, Pawel Stankiewicz, James R. Lupski

Institutions: Baylor College of Medicine, Texas Children's Hospital

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: bronze

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

Awards: G2516091520, G2809595494, Chromosome Rearrangements and Mental Retardation, MOLECULAR &CLINICAL ANALYSIS OF SMITH-MAGENIS SYNDROME, General Clinical Research Center, G71706220, G809414603

OpenAlex ID: W2071334458

FWCI: 3.712

Cites: 29

Cited by: 114

Related to: 10