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4
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"Neutropenia," severe "congenital," "10," autosomal recessive
- ... NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2 NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL ... myelopoiesis. Blood. 2008 Jun 15;111(12):5427-32. doi: 10.1182/blood-2007-10-077396. Citation on PubMed ...
- ... with bone remodeling underlie the major features of autosomal recessive osteopetrosis. More About This Health Condition MedlinePlus Genetics provides information about Severe congenital neutropenia More About This Health Condition Atp6i ATP6N1C ATP6V0A3 ...
- ... Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 Feb 5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 ...
- ... Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 Feb 5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 ...