No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Child
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Child, Preschool
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Corneal Opacity / congenital
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Corneal Opacity / enzymology
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Corneal Opacity / genetics*
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Cutis Laxa / congenital*
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Cutis Laxa / enzymology
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Cutis Laxa / genetics
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Female
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Humans
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Intellectual Disability / enzymology
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Intellectual Disability / genetics*
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Male
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Pyrroline Carboxylate Reductases / genetics*
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delta-1-Pyrroline-5-Carboxylate Reductase
Substances
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Pyrroline Carboxylate Reductases