A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). [electronic resource]
Producer: 20110223Description: 1403-7 p. digitalISSN:- 1432-1076
- Child
- DNA -- genetics
- DNA Mutational Analysis
- Ectodermal Dysplasia -- complications
- Ectodermal Dysplasia 1, Anhidrotic
- Humans
- I-kappa B Kinase -- genetics
- Immunologic Deficiency Syndromes -- complications
- Incontinentia Pigmenti -- complications
- Lymphedema -- complications
- Male
- Mutation
- Osteoporosis -- complications
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Publication Type: Case Reports; Journal Article
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