Pediatric Endocrinologist - Dr. L. Lyndon Key - Difficult Pediatric Dilemmas Clinic in Charleston, South Carolina

Gene Identification - highly recommend contacting Wim Van Hul if you or someone you know if affected by osteopetrosis.

Stuart F. Kupfer - interested in identifying genes involved in bone development and osteoclast differentiation

Pam L. Schwartzberg, M.D. - Genetic disease research

William S. Sly - We identified carbonic anhydrase II deficiency as the primary defect in the syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

Peter F. Coccia, M.D. -Clinical interests include osteopetrosis

Steven L. Teitelbaum, M.D. - Washington University - St. Louis -recently identified a genetic regulatory factor that prevents osteopetrosis by ensuring that osteoclasts develop normally. He now studies how osteoclasts degrade bone.