Skeletal Dysplasia Laboratory (Hospital Universitario La Paz)
General information
Personnel
- Karen Heath, Principal Investigator
Phone: +34912071564
Email: karen.heath@salud.madrid.org
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 1
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| TWIST1 | 1 | Nov 7, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Saethre-Chotzen syndrome | 1 | Nov 7, 2022 |