No abstract available
MeSH terms
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Child, Preschool
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Diagnosis, Differential
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Exons / genetics
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Female
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Genotype
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Hearing Loss, Sensorineural / diagnosis
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Hearing Loss, Sensorineural / genetics*
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Humans
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Immunologic Deficiency Syndromes / diagnosis
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Immunologic Deficiency Syndromes / genetics*
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Lymphohistiocytosis, Hemophagocytic / diagnosis
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Lymphohistiocytosis, Hemophagocytic / genetics*
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Mutation / genetics*
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Phenotype
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Piebaldism / diagnosis
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Piebaldism / genetics*
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Pigmentation Disorders / diagnosis
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Pigmentation Disorders / genetics*
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Primary Immunodeficiency Diseases
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RNA Splice Sites / genetics
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rab27 GTP-Binding Proteins / genetics*
Substances
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RNA Splice Sites
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rab27 GTP-Binding Proteins
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RAB27A protein, human
Supplementary concepts
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Griscelli syndrome type 1
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Griscelli syndrome type 2