Article
Hematopoietic stem cell transplantation in a patient with osteopetrosis and mutation in CLCN7: long-term follow-up.
Boletin medico del Hospital Infantil de Mexico - 2 Mar 2021
Gaytán-Morales José F, Castorena-Villa Iván, Mendoza-Camargo Fredenet O, Cortés-Flores Dolores C, Gómez-Domíguez Yazmin A, Montenegro-Chahar Pamela D, García-Maldonado Paulina, Parra-Ortega Israel
Abstract excerpt
INTRODUCTION: Osteopetrosis is a rare hereditary bone dysplasia characterized by insufficient osteoclast activity that results in increased bone mineral density. Hematopoietic stem cell transplantation (HSCT) can reverse skeletal abnormalities and restore hematopoiesis. CLINICAL CASE: We present the case of a 3-year and 2-month-old male patient with the diagnosis of osteopetrosis. The patient underwent allogeneic...
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