No abstract available
Publication types
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Acyltransferases / genetics
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Child
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Child, Preschool
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Chondrodysplasia Punctata, Rhizomelic / genetics*
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Female
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Heart Defects, Congenital / epidemiology
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Heart Defects, Congenital / genetics*
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Humans
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Infant
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Male
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Peroxisomal Targeting Signal 2 Receptor
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Peroxisomes / pathology
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Receptors, Cytoplasmic and Nuclear / genetics
Substances
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Peroxisomal Targeting Signal 2 Receptor
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Receptors, Cytoplasmic and Nuclear
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Acyltransferases
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glycerone-phosphate O-acyltransferase
Supplementary concepts
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Rhizomelic chondrodysplasia punctata, type 1
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Rhizomelic chondrodysplasia punctata, type 2
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Rhizomelic chondrodysplasia punctata, type 3