Prenatal diagnosis of X-linked myopathy associated with a gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings.
| Title | Prenatal diagnosis of X-linked myopathy associated with a gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings. |
| Publication Type | Journal Article |
| Year of Publication | 2017 |
| Authors | Konialis, C., Assimakopoulos E., Hagnefelt B., Karapanou S., Sotiriadis A., & Pangalos C. |
| Journal | Clin Case Rep |
| Volume | 5 |
| Issue | 3 |
| Pagination | 308-311 |
| Date Published | 2017 Mar |
| ISSN | 2050-0904 |
| Abstract | Fetal malformations detected through routine prenatal ultrasound examination comprise a heterogeneous group potentially associated with genetic disorders where the underlying cause is difficult to establish. We present the prenatal diagnosis of a rare X-linked myopathy involving a new VMA21 gene mutation, detected through a novel prenatal exome sequencing-based approach. |
| DOI | 10.1002/ccr3.822 |
| Alternate Journal | Clin Case Rep |
| PubMed ID | 28265396 |
| PubMed Central ID | PMC5331204 |
