SNX10mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

AnSNX10mutation causes malignant osteopetrosis of infancy

(2012) Memet Aker et al.   JOURNAL OF MEDICAL GENETICS

Insights into the PX (phox-homology) domain and SNX (sorting nexin) protein families: structures, functions and roles in disease

(2011) Rohan D. Teasdale et al.   BIOCHEMICAL JOURNAL

A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo

(2011) Yanqun Chen et al.   CELL RESEARCH

The Genetic Structure of the Swedish Population

(2011) Keith Humphreys et al.   PLoS One

A single-center experience in 20 patients with infantile malignant osteopetrosis

(2009) Evelina Mazzolari et al.   AMERICAN JOURNAL OF HEMATOLOGY

Osteopetrosis-More than only a disease of the bone

(2009) Anders Fasth   AMERICAN JOURNAL OF HEMATOLOGY

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

(2009) Elena A Bliznetz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

(2008) Matteo M. Guerrini et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor

(2008) Anna Villa et al.   CALCIFIED TISSUE INTERNATIONAL