No abstract available
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / metabolism
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Biomarkers
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Bone Diseases, Developmental / diagnosis*
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Bone Diseases, Developmental / genetics*
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Bone Diseases, Developmental / metabolism
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Craniofacial Abnormalities / diagnosis*
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Craniofacial Abnormalities / genetics*
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Craniofacial Abnormalities / metabolism
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Fatal Outcome
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Female
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Genetic Association Studies* / methods
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Genetic Predisposition to Disease*
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Humans
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Infant, Newborn
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Mutation*
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NFI Transcription Factors / genetics*
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Phenotype*
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Radiography
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Septo-Optic Dysplasia / diagnosis*
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Septo-Optic Dysplasia / genetics*
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Septo-Optic Dysplasia / metabolism
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Whole Genome Sequencing
Substances
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Biomarkers
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NFI Transcription Factors
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NFIX protein, human