Work

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

Year: 2008

Type: article

Study design: Case Report

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2008.119

Authors: Maria Clara Bonaglia, Roberto Ciccone, Giorgio Gimelli, Stefania Gimelli, Susan Marelli, Joke Verheij, Roberto Giorda, Rita Grasso, Renato Borgatti, Filomena Pagone, Laura Rodrìguez, Maria-Luisa Martinez-Frias, Conny van Ravenswaaij, Orsetta Zuffardi

Institutions: IRCCS Eugenio Medea, University of Pavia, Istituto Giannina Gaslini, University Medical Center Groningen, University of Groningen, Hospital Universitari Sant Joan de Reus, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Universidad Complutense de Madrid, Policlinico San Matteo Fondazione

Language: English

Topic: Genomic variations 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: Fondazione Cariplo, Fondazione Pierfranco e Luisa Mariani

OpenAlex ID: W2106443584

FWCI: 8.17

Cites: 24

Cited by: 150

Related to: 10