Work

Familial Frameshift SRY Mutation Inherited from a Mosaic Father with Testicular Dysgenesis Syndrome

Year: 2009

Type: article

Study design: Case Report

Source: The Journal of Clinical Endocrinology & Metabolism

DOI: 10.1210/jc.2009-0226

Authors: Bertrand Isidor, Carmen Capito, Françoise Paris, Sabine Baron, Nadège Corradini, Blandine Cabaret, Marc-David Leclair, Mathilde Giraud, Dominique Martin-Coignard, Albert David, Charles Sultan, Cédric Le Caignec

Institutions: Centre Hospitalier Universitaire de Nantes, Hôpital Lapeyronie, Centre Hospitalier du Mans, Centre National de la Recherche Scientifique, Inserm, Université de Nantes, Nantes Université

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

OpenAlex ID: W2029397229

FWCI: 1.929

Cites: 22

Cited by: 38

Related to: 10