Maternal Transmission of 17q12 Microdeletion: Intrafamilial Phenotypic Variability and Diagnostic Hurdles—A Case Report
The relatively rare proximal 17q12 microdeletion, including the deletion of the HNF1B gene, is associated with renal cysts and diabetes syndrome (RCAD). This genomic rearrangement results in a wide range of phenotypes, including renal cysts and diabetes, which are consistent with maturity-onset diab...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2024-09-01
|
| Series: | DNA |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2673-8856/4/4/23 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|