Autosomal recessive osteopetrosis type I: description of pathogenic variant of TCIRG1 gene
Bol. méd. Hosp. Infant. Méx; 75 (4), 2018
Abstract Background: Autosomal malignant osteopetrosis is a rare condition arising from dysfunction of bone-resorbing osteoclasts, in which diagnosis requires a high suspicion index. Treatment of choice is allogeneic stem cell transplantation. Best outcomes occur if the procedure is carried out before ...