No abstract available
Keywords:
Autoinmune; Homozygous variant; Neuromuscular; Rare diseases; Whole exome trio analysis; Zinc finger proteins.
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Alopecia / genetics*
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Bone and Bones / abnormalities*
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Diarrhea / genetics*
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Exome / genetics
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Female
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Genetic Association Studies
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Genetic Predisposition to Disease*
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Homozygote*
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Humans
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Pedigree
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Spasm / genetics*