A5050763151- NF-κB Signaling Pathways
- Interpreting and Communication in Healthcare
- interferon and immune responses
- RNA regulation and disease
- Translation Studies and Practices
The University of Texas MD Anderson Cancer Center
2023
The University of Texas Health Science Center at Houston
2023
University of California, San Francisco
2023
Cancer Genetics (United States)
2023
The objective of this study was to identify interpretation challenges specific exome sequencing and errors potential clinical significance in the context genetic counseling for adults at risk a hereditary cancer syndrome. Thirty transcripts interpreter-mediated telephone results disclosure appointments were coded by bilingual researchers, coders applied an overall rating denote degree which interfered with communication overall. Genetic counselors reviewed subset flagged those likely have...
Pathogenic variants in TRAF7 are often de novo and features of individuals harboring these characterized by neurodevelopmental delay, ptosis, cardiac defects, limb anomalies, dysmorphic features. We present a familial case two African American patients with novel, likely pathogenic c.1936G>A variant TRAF7. Patient 1 is 31-year-old female patent ductus arteriosus (PDA), intellectual disability, other She was identified to harbor this mosaic (33.89%) state leukocytes. Her son, 2, 10-month-old...