Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene
Abstract. Trisomy 6q is a recognizable syndrome which exhibits psychomotor/growth retardation, developmental/intellectual disabilities, feeding difficulties, facial dysmorphism, hearing loss, brain and heart malformations. The purpose of this study was to delineate the prenatal features of proximal...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer
2022-06-01
|
| Series: | Medicine |
| Online Access: | http://journals.lww.com/10.1097/MD.0000000000029369 |