Work

A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma

Year: 2009

Type: article

Study design: Case Report

Source: Journal of Pediatric Surgery

DOI: 10.1016/j.jpedsurg.2008.10.003

Authors: Nicholas G. Cost, Aaron T. Ludwig, Duncan T. Wilcox, Dinesh Rakheja, Steven J. Steinberg, Linda A. Baker

Institutions: Children's Medical Center, The University of Texas Southwestern Medical Center, Johns Hopkins University, Johns Hopkins Medicine

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: closed

Funders: Johns Hopkins University, National Center for Research Resources

Award: GENERAL CLINICAL RESEARCH CENTER

OpenAlex ID: W2002768601

FWCI: 1.165

Cites: 16

Cited by: 15

Related to: 10