Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation. [electronic resource]
Producer: 20091012Description: 702-5 p. digitalISSN:- 1872-7131
- Child
- Corpus Callosum -- pathology
- Genetic Predisposition to Disease
- Humans
- Internal Capsule -- pathology
- Magnetic Resonance Imaging
- Male
- Micrognathism -- pathology
- Mucolipidoses -- diagnosis
- Phenotype
- Point Mutation -- genetics
- TRPM Cation Channels -- genetics
- Transient Receptor Potential Channels
- Turkey
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Publication Type: Case Reports; Journal Article
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