Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.

Piccolo, Pasquale; Sabatino, Valeria; Mithbaokar, Pratibha; Polishchuck, Elena; Law, Simon K; Magraner-Pardo, Lorena; Pons, Tirso; Polishchuck, Roman; Brunetti-Pierri, Nicola.

Afiliação

Piccolo P; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
Sabatino V; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.
Mithbaokar P; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
Polishchuck E; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
Law SK; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
Magraner-Pardo L; Jules Stein Eye Institute, University of California, Los Angeles, CA, USA.
Pons T; Spanish National Cancer Research Center (CNIO), Madrid, Spain.
Polishchuck R; Department of Immunology and Oncology, National Center for Biotechnology, Spanish National Research Council (CNB-CSIC), Madrid, Spain.
Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.