Description of 5 Novel
SLC34A3/
NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria
Kidney Int Rep
.
2019 May 17;4(8):1179-1186.
doi: 10.1016/j.ekir.2019.05.004.
eCollection 2019 Aug.
Authors
Alyssa Chen
1
2
,
Hannah Ro
1
,
Venkat Ram Rakesh Mundra
3
,
Kelly Joseph
4
,
Dennis Brenner
5
,
Thomas O Carpenter
4
,
Dana V Rizk
3
,
Clemens Bergwitz
1
Affiliations
1
Section Endocrinology, Department of Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.
2
AI Therapeutics, Guilford, Connecticut, USA.
3
Division of Nephrology, Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.
4
Pediatric Endocrinology, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
5
Division of Pediatric Endocrinology, Saint Barnabas Medical Center, New Jersey Medical School, Livingston, New Jersey, USA.
PMID:
31440709
PMCID:
PMC6698313
DOI:
10.1016/j.ekir.2019.05.004
No abstract available
Publication types
Case Reports
Grants and funding
P30 DK079310/DK/NIDDK NIH HHS/United States
UL1 TR001863/TR/NCATS NIH HHS/United States