No abstract available
MeSH terms
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Aortic Diseases / genetics*
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Aortic Diseases / pathology
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Child, Preschool
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Dental Enamel Hypoplasia / genetics*
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Dental Enamel Hypoplasia / pathology
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Exome Sequencing
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Female
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Humans
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Interferon-Induced Helicase, IFIH1 / genetics*
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Metacarpus / abnormalities*
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Metacarpus / pathology
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Muscular Diseases / genetics*
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Muscular Diseases / pathology
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Mutation, Missense / genetics*
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Odontodysplasia / genetics*
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Odontodysplasia / pathology
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Osteoporosis / genetics*
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Osteoporosis / pathology
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Polymorphism, Single Nucleotide / genetics
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Vascular Calcification / genetics*
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Vascular Calcification / pathology
Substances
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IFIH1 protein, human
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Interferon-Induced Helicase, IFIH1
Supplementary concepts
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Singleton Merten syndrome