Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families

Pantel, D., Mertens, N. D., Schneider, R., Hölzel, S., Kari, J. A., Desoky, S. E., Shalaby, M. A., Lim, T. Y., Sanna-Cherchi, S., Shril, S., & Hildebrandt, F. (2023). Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. Pediatric Nephrology, 39(2), 455–461. https://doi.org/10.1007/s00467-023-06134-2
Authors:
Dalia Pantel
Nils D Mertens
Ronen Schneider
Selina Hölzel
Jameela A Kari
Sherif El Desoky
Mohamed A Shalaby
Tze Y Lim
Simone Sanna-Cherchi
Shirlee Shril
Friedhelm Hildebrandt
Affiliated Authors:
Tze Y Lim
Simone Sanna-Cherchi
Columbia Affiliation:
Subjects:
Nephrotic Syndrome (MeSH)
Author Keywords:
copy number variation (cnv)
exome sequencing (es)
monogenic disease causation
steroid-resistant nephrotic syndrome (srns)
whole exome sequencing (wes)
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Publication Type:
Article
Unique ID:
10.1007/s00467-023-06134-2
PMID:
37670083
DOI:
10.1007/s00467-023-06134-2
Journal:
Pediatric Nephrology
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created: