We have located links that may give you full text access.
CASE REPORTS
JOURNAL ARTICLE
Combined TSC1 and LMX1B mutations in a single patient.
Clinical Dysmorphology 2014 April
Tuberous sclerosis complex (TSC) and nail-patella syndrome (NPS) are autosomal dominant pleiotropic disorders with full penetrance that can both involve kidneys. TSC1 and NPS genes are located on chromosome 9q3. In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes. The father, who has both disorders, has passed on TSC to three of his children, NPS to another three, and both TSC and NPS to one child. Patients carrying both mutations appear to show an additive phenotype and no obvious epistatic effects. The segregation of two dominant disorders in this family poses a challenge for genetic counseling and indicates the importance of a careful clinical and molecular evaluation for accurate risk assessment.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app