Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to aCLCN7mutation

Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models

(2013) Imranul Alam et al.   BONE

Genetics in Endocrinology: Autosomal dominant osteopetrosis revisited: lessons from recent studies

(2013) Jens Bollerslev et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Skeletal dysplasias with increased bone density: Evolution of molecular pathogenesis in the last century

(2013) Shagun Aggarwal   GENE

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

(2010) Michael P Whyte et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The G215R Mutation in the Cl−/H+-Antiporter ClC-7 Found in ADO II Osteopetrosis Does Not Abolish Function but Causes a Severe Trafficking Defect

(2010) Patrick Schulz et al.   PLoS One

Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7

(2009) Lena Wartosch et al.   FASEB JOURNAL