Work

Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum

Year: 2013

Type: article

Study design: Observational Study

Source: Journal of Investigative Dermatology

DOI: 10.1038/jid.2013.370

Authors: Qiaoli Li, Jill L. Brodsky, Laura K. Conlin, Bruce Pawel, Andrew C. Glatz, Rachel I. Gafni, Leon Schurgers, Jouni Uitto, Hakon Hakonarson, Matthew A. Deardorff, Michael A. Levine

Institutions: Thomas Jefferson University, Children's Hospital of Philadelphia, University of Pennsylvania, National Institutes of Health, National Institute of Dental and Craniofacial Research, Maastricht University

Language: English

Topic: Dermatological and Skeletal Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Dermatology Foundation, Shriners Hospitals for Children, National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NHLBI Division of Intramural Research

Awards: The Cohesin Complex and Cornelia de Lange Syndrome, The Role of GCM2 in Parathyroid Gland Homeostasis, Biochemistry and Morphology of Connective Tissue, Modifier Genes for Ectopic Mineralization

OpenAlex ID: W2061476769

FWCI: 5.956

Cites: 42

Cited by: 85

Related to: 10