Genetics in Medicine Open (Jan 2024)
P403: Role of comprehensive renal genetic testing in diagnosing a RMND-1 mitochondrial disease in two adult cases exhibiting variable disease phenotypes
- Quinn Stein,
- Ryan Mascarenhas,
- Sumit Punj,
- Maggie Westemeyer,
- Emily Hendricks,
- Tessa Pitman,
- Meg Hager,
- Nour Baddar,
- Kristen Connors,
- Alexa Bacher,
- Robin Larson,
- Lauren Zec,
- Jennifer Stoddard
Affiliations
- Quinn Stein
- Natera, Inc., Austin, TX
- Ryan Mascarenhas
- Colorado Kidney Care, Lone Tree, CO
- Sumit Punj
- Natera, Inc., Austin, TX
- Maggie Westemeyer
- Natera, Inc., Austin, TX
- Emily Hendricks
- Natera, Inc., Austin, TX
- Tessa Pitman
- Natera, Inc., Austin, TX
- Meg Hager
- Natera, Inc., Austin, TX
- Nour Baddar
- Natera, Inc., Austin, TX
- Kristen Connors
- Boston University, Boston, MA
- Alexa Bacher
- Natera, Inc., Austin, TX
- Robin Larson
- Natera, Inc., Austin, TX
- Lauren Zec
- Natera, Inc., Austin, TX
- Jennifer Stoddard
- Pinehurst Nephrology Associates, Pinehurst, NC
- Journal volume & issue
-
Vol. 2
p. 101297