No abstract available
Keywords:
FOXG1; clinical research; diagnostic dilemma; diagnostic odyssey; genetic testing; secondary finding; whole exome sequencing.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
MeSH terms
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Child, Preschool
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Forkhead Transcription Factors / genetics
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Genetic Testing / methods*
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Genotype
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Government Programs / methods
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Humans
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Male
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Mutation
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NAV1.5 Voltage-Gated Sodium Channel / genetics
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National Institutes of Health (U.S.) / organization & administration
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Nerve Tissue Proteins / genetics
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Phenotype
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Rare Diseases / diagnosis*
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Rare Diseases / genetics
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United States
Substances
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FOXG1 protein, human
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Forkhead Transcription Factors
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NAV1.5 Voltage-Gated Sodium Channel
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Nerve Tissue Proteins
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SCN5A protein, human