Work

Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3

Year: 2010

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.33208

Authors: Jayson D. Rodriguez, Shambhu S. Bhat, Ilaria Meloni, Sydney Ladd, Nancy D. Leslie, Emanuel O. Doyne, Alessandra Renieri, Barbara R. DuPont, Roger E. Stevenson, Charles E. Schwartz, Anand K. Srivastava

Institutions: Greenwood Genetic Center, University of Siena, Cincinnati Children's Hospital Medical Center

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, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G4785865723, X-Linked Mental Retardation-Linkage

OpenAlex ID: W2093762671

FWCI: 1.617

Cites: 8

Cited by: 24

Related to: 10