Work

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita

Year: 2001

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics

DOI: 10.1002/ajmg.10062

Authors: Sheila Unger, Jarmo Korkko, Deborah Krakow, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn

Institutions: Cedars-Sinai Medical Center, Tulane University, University of California, Los Angeles

Language: English

Topic: Connective tissue disorders research

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 Institute of Arthritis and Musculoskeletal and Skin Diseases, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G199406178, The Skeletal Dysplasias, G3488061172, BIOCHEMICAL AND MOLECULAR BASIS OF THE COMP DISORDERS

OpenAlex ID: W2124808024

FWCI: 0.913

Cites: 28

Cited by: 48

Related to: 10