No abstract available
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Adolescent
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Craniofacial Abnormalities / diagnosis*
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Extracellular Signal-Regulated MAP Kinases / metabolism
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Fibroblasts / enzymology
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Heart Defects, Congenital / diagnosis*
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Humans
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MAP Kinase Kinase 2 / genetics
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Male
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Mutation
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Phosphorylation
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Skin Abnormalities / diagnosis*
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Syndrome
Substances
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MAP2K2 protein, human
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Extracellular Signal-Regulated MAP Kinases
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MAP Kinase Kinase 2