RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations
Alessandra Pangrazio(Institute of Biomedical Technologies), Cristina Sobacchi(Humanitas University), Matteo M. Guerrini(Fondazione Humanitas per la Ricerca), Miep Helfrich(University of Aberdeen), Barbara Cassani(Humanitas University), Ansgar Schulz(University Hospital Ulm), Anne Durandy(Hôpital Necker-Enfants Malades), Despina Moshous(Hôpital Necker-Enfants Malades), Alain Fischer(Université Claude Bernard Lyon 1), Veronica Marrella(Humanitas University), Ashok Vellodi(Great Ormond Street Hospital), Paolo Vezzoni(Humanitas University), Nadia Lo Iacono(Institute of Genetic and Biomedical Research), Paul Veys(Great Ormond Street Hospital), David Mellis(University of Aberdeen), Anna Villa(Institute of Genetic and Biomedical Research), Dario Strina(Institute of Genetic and Biomedical Research), Luca Zammataro(IRCCS Humanitas Research Hospital), Angela Duthie(University of Aberdeen), Robert Chiesa(Great Ormond Street Hospital), Claire Schlack(Medical Genetics Center), Julie C. Crockett(University of Aberdeen), Uwe Kornak(Humboldt-Universität zu Berlin)
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