Work

Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia

Year: 2005

Type: article

Study design: Case Report

Source: The American Journal of Human Genetics

DOI: 10.1086/429252

Authors: Gopalrao V.N. Velagaleti, Gabriel A. Bien-Willner, Jill K. Northup, Lillian H. Lockhart, Judy C. Hawkins, Syed M. Jalal, Marjorie Withers, James R. Lupski, Pawel Stankiewicz

Institutions: The University of Texas Medical Branch at Galveston, Mayo Clinic, Baylor College of Medicine, Texas Children's Hospital

Language: English

Topic: Genetic and Clinical Aspects of Sex Determination 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 Institutes of Health, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G2156526443, G2516091520, Chromosome Rearrangements and Mental Retardation, Baylor Intellectual and Developmental Disabilities Research Center

OpenAlex ID: W1973202954

FWCI: 9.02

Cites: 54

Cited by: 182

Related to: 10