Work

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

Year: 2012

Type: article

Study design: Observational Study

Source: Gene

DOI: 10.1016/j.gene.2012.11.055

Authors: Michele Ciavarella, Michelina Coco, Filomena Baorda, Pietro Stanziale, Massimiliano Chetta, Luigi Bisceglia, Pietro Palumbo, Mario Bengala, Paola Raiteri, Margherita Silengo, Camilla Caldarini, Renato Facchini, Roberto Lala, Maria Luigia Cavaliere, Davide De Brasi, Barbara Pasini, Leopoldo Zelante, Vito Guarnieri, Leonardo D'Agruma

Institutions: Casa Sollievo della Sofferenza, University of Bari Aldo Moro, Policlinico Tor Vergata, University of Turin, Ospedale Regina Margherita, Ospedale Antonio Cardarelli

Language: English

Topic: Bone Tumor Diagnosis and Treatments

Subfield: Orthopedics and Sports Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W1995089366

FWCI: 3.353

Cites: 16

Cited by: 28

Related to: 10