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Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2120168328

Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

About this item

Full title

Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

Publisher

England: Nature Publishing Group

Journal title

European journal of human genetics : EJHG, 2018-11, Vol.26 (11), p.1708-1712

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

Nail Patella syndrome (NPS) is a rare autosomal dominant disease characterized by varying degrees of patella, nail, and elbows dysplasia and also ocular and renal congenital abnormalities. The renal involvement, ranging from hematuria and proteinuria to end-stage renal disease, is present in 22-60% of NPS cases. Heterozygous variants in LMX1B are k...

Alternative Titles

Full title

Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2120168328

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2120168328

Other Identifiers

ISSN

1018-4813,1476-5438

E-ISSN

1476-5438

DOI

10.1038/s41431-018-0213-4

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