Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis

SiddaiahgariS.R.; MakadiaD.; ShahN.DeviR.R.LingappaL.

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Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis

机译：Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis

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To the Editor: Infantile malignant osteopetrosis (ARO), an autosomal recessive disorder of osteoclast dysfunction, manifests with anemia, thrombocytopenia, hepatosplenomegaly, visual impairment, optic atrophy and deafness. Different genetic mutations described are TCIRG1 (encoding the a3 subunit of ruffled membrane), CLCN7, OSTM1, PLEKHM1 etc 1, 2. We report novel mutation in an infant with malignant osteopetrosis on TCIRG1 gene.

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《Indian journal of pediatrics》 |2014年第9期|969-970|共2页
作者
SiddaiahgariS.R.; MakadiaD.; ShahN.DeviR.R.LingappaL.;
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Division of Pediatric Neurology and Neurorehabilitation, Rainbow Children's Hospital and Perinatal;

Division of Pediatric Hematology Oncology, Rainbow Children's Hospital and Perinatal Centre;

Division of General Pediatrics, Rainbow Children's Hospital and Perinatal Centre, Hyderabad, IndiaDivision of Pediatric Genetics and Metabolic Unit, Rainbow Children's Hospital and Perinatal Centre;

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正文语种英语
中图分类儿科学;
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Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis

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