Article
[Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients].
Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) - 1 Jan 2000
Hernández-Martínez Claudia, Guzmán-Martínez Mara Noemí, Scheffler-Mendoza Selma, Espinosa-Padilla Sara Elva, Sobacchi Cristina, Blancas-Galicia Lizbeth
Abstract excerpt
BACKGROUND: Osteopetrosis is a heterogeneous group of diseases that are characterized by increased bone density due to abnormalities in osteoclast differentiation or function, which result in a lack of bone resorption. CASE REPORTS: Two patients with osteopetrosis onset since the first months of life, with facial dysmorphia, blindness, deafness, hepatosplenomegaly, hypotonia, neurodevelopmental retardation and...
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