Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation. [electronic resource]
Producer: 20170216Description: 388-393 p. digitalISSN:- 2791-6421
- Brain Diseases -- genetics
- Carboxylic Ester Hydrolases -- genetics
- Deafness -- genetics
- Dystonia -- genetics
- Female
- Humans
- Infant, Newborn
- Leigh Disease -- genetics
- Magnetic Resonance Imaging
- Male
- Metabolism, Inborn Errors -- diagnosis
- Microcephaly -- genetics
- Muscle Spasticity -- genetics
- Mutation
- Pedigree
- Siblings
- Syndrome
- Turkey
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Publication Type: Case Reports; Journal Article
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