Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease. [electronic resource]
Producer: 20031023Description: 15-24 p. digitalISSN:- 1552-4825
- Chorionic Villi Sampling
- Chromosome Aberrations
- Chromosome Mapping
- Chromosomes, Human, X
- Female
- Heterozygote
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Membrane Proteins
- Mosaicism -- genetics
- Myelin Proteolipid Protein -- genetics
- Pedigree
- Pelizaeus-Merzbacher Disease -- diagnosis
- Sequence Deletion
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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