8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
Microduplication of chromosome 8q22.1 is mainly associated to Leri’s pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not syste...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hindawi Limited
2018-01-01
|
| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2018/3871425 |