Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A. [electronic resource]
Producer: 20210504Description: 789-792 p. digitalISSN:- 1365-2230
- Child
- Child, Preschool
- Codon, Nonsense
- Egypt -- epidemiology
- Female
- Genotype
- Hearing Loss, Sensorineural -- diagnosis
- Humans
- Hypopigmentation -- diagnosis
- Immunologic Deficiency Syndromes -- diagnosis
- Infant
- Lymphohistiocytosis, Hemophagocytic -- diagnosis
- Male
- Myosin Heavy Chains -- genetics
- Myosin Type V -- genetics
- Nervous System Diseases -- diagnosis
- Pedigree
- Phenotype
- Piebaldism -- diagnosis
- Pigmentation Disorders -- diagnosis
- Prevalence
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Publication Type: Case Reports; Journal Article
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