No abstract available
MeSH terms
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Adult
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Agammaglobulinaemia Tyrosine Kinase
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Agammaglobulinemia / diagnosis*
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Chromosomes, Human, Pair 22 / genetics*
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Consanguinity
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DNA Mutational Analysis
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Deaf-Blind Disorders / diagnosis*
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Dystonia / diagnosis*
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Genetic Diseases, X-Linked / diagnosis*
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Humans
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Infant
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Intellectual Disability / diagnosis*
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Male
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Membrane Transport Proteins / genetics
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Mitochondrial Precursor Protein Import Complex Proteins
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Optic Atrophy / diagnosis*
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Paraplegia
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Pedigree
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Protein-Tyrosine Kinases / genetics
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Sensory Receptor Cells / pathology*
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Sequence Deletion
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TATA-Binding Protein Associated Factors / genetics
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Transcription Factor TFIID / genetics
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Young Adult
Substances
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Membrane Transport Proteins
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Mitochondrial Precursor Protein Import Complex Proteins
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TAF7 protein, human
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TATA-Binding Protein Associated Factors
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TIMM8A protein, human
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Transcription Factor TFIID
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Protein-Tyrosine Kinases
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Agammaglobulinaemia Tyrosine Kinase
Supplementary concepts
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Bruton type agammaglobulinemia
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Mohr-Tranebjaerg syndrome