Work

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis

Year: 2009

Type: article

Study design: Case Report

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2009.27

Authors: Francesca Mari, Pia Hermanns, Maria L Giovannucci-Uzielli, Fiorella Galluzzi, Daryl Scott, Brendan Lee, Alessandra Renieri, Sheila Unger, Bernhard Zabel, Andrea Superti-Furga

Institutions: University of Freiburg, University of Florence, Baylor College of Medicine, University of Siena

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: bronze

Funders: Università degli Studi di Siena, Deutscher Akademischer Austauschdienst, Bundesministerium für Bildung und Forschung

OpenAlex ID: W1990866692

FWCI: 2.501

Cites: 18

Cited by: 37

Related to: 10