No abstract available
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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Abortion, Habitual / genetics*
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Abortion, Habitual / pathology
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Adaptor Proteins, Signal Transducing
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Adult
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Alleles
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Bone and Bones / abnormalities*
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Bone and Bones / pathology
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Craniosynostoses / genetics*
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Craniosynostoses / pathology
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Cytoskeletal Proteins
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Ectodermal Dysplasia / genetics*
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Ectodermal Dysplasia / pathology
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Exome
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Female
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Heterozygote
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Humans
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Mutation
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Proteins / genetics*
Substances
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Adaptor Proteins, Signal Transducing
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Cytoskeletal Proteins
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IFT122 protein, human
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Proteins
Supplementary concepts
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Cranioectodermal Dysplasia