Work

Broadening the phenotype associated with mutations in UPF3B: Two further cases with renal dysplasia and variable developmental delay

Year: 2012

Type: article

Study design: Case Report

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2012.03.010

Authors: Sally Ann Lynch, Lam Son Nguyen, Li Yen Ng, Mary Waldron, Denise McDonald, Jozef Gecz

Institutions: Children's Health Ireland at Crumlin, The University of Adelaide, Tallaght University Hospital, South Australia Pathology, Women's and Children's Hospital

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: W2043780245

FWCI: 1.593

Cites: 13

Cited by: 40

Related to: 10