Work

Snyder–Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype

Year: 2013

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.36116

Authors: Angela Peron, Luigina Spaccini, Joy Norris, Stefania M. Bova, Angelo Selicorni, Giovanna Weber, Tim Wood, Charles E. Schwartz, Massimo Mastrangelo

Institutions: Ospedale dei Bambini Vittore Buzzi, Greenwood Genetic Center, Vita-Salute San Raffaele University

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2027212924

FWCI: 1.765

Cites: 9

Cited by: 36

Related to: 10