Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations
Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other c...
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Materiálatiipa: | Girji |
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Hindawi Limited,
2016-01-01T00:00:00Z.
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