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CLCN7‐related neuropathic infantile osteopetrosis in siblings.
- Source :
-
Pediatrics International . Oct2021, Vol. 63 Issue 10, p1251-1252. 2p. - Publication Year :
- 2021
-
Abstract
- The article presents the discussion on osteopetrosis encompassing a heterogeneous group of hereditary disorders caused by osteoclast dysfunction. Topics include impairing resorption and remodeling of woven bones and ultimately causing osteosclerosis; and bone marrow failure and neurological deficits secondary to stenosis of neural foramina.
- Subjects :
- *NEUROLOGICAL disorders -- Genetic aspects
*TREATMENT of peripheral neuropathy
*DIAGNOSIS of neurological disorders
*THERAPEUTIC use of interferons
*CRANIAL radiography
*GENETIC disorder diagnosis
*GENETIC mutation
*OSTEOSCLEROSIS
*SEQUENCE analysis
*ELECTROENCEPHALOGRAPHY
*RESPIRATORY insufficiency
*OSTEOPETROSIS
*MOLECULAR pathology
*MAGNETIC resonance imaging
*RECESSIVE genes
*LACTATE dehydrogenase
*MEMBRANE proteins
*THROMBOCYTOPENIA
*COMPUTED tomography
*ASPARTATE aminotransferase
*CHILDREN
Subjects
Details
- Language :
- English
- ISSN :
- 13288067
- Volume :
- 63
- Issue :
- 10
- Database :
- Academic Search Index
- Journal :
- Pediatrics International
- Publication Type :
- Academic Journal
- Accession number :
- 152949740
- Full Text :
- https://doi.org/10.1111/ped.14594