Infantile neuroaxonal dystrophy caused by uniparental disomy.
Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the phospholipase A2 group 6 (Pla2G6) gene. Affected individuals usually present between the ages of 6 months and 2 years with rapid cognitive and motor regression and axial hypoton...
| Main Authors: | , , , , , , , |
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| פורמט: | Journal article |
| שפה: | English |
| יצא לאור: |
2014
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