Genetic syndromes affecting kidney development

Abhijeet Pal, Kimberly J. Reidy

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations

Abstract

Renal anomalies are common birth defects that may manifest as a wide spectrum of anomalies from hydronephrosis (dilation of the renal pelvis and calyces) to renal aplasia (complete absence of the kidney(s)). Aneuploidies and mosaicisms are the most common syndromes associated with CAKUT. Syndromes with single gene and renal developmental defects are less common but have facilitated insight into the mechanism of renal and other organ development. Analysis of underlying genetic mutations with transgenic and mutant mice has also led to advances in our understanding of mechanisms of renal development.

Original languageEnglish (US)
Title of host publicationResults and Problems in Cell Differentiation
PublisherSpringer Verlag
Pages257-279
Number of pages23
Volume60
DOIs
StatePublished - 2017

Publication series

NameResults and Problems in Cell Differentiation
Volume60
ISSN (Print)0080-1844
ISSN (Electronic)1861-0412

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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  • Cite this

    Pal, A., & Reidy, K. J. (2017). Genetic syndromes affecting kidney development. In Results and Problems in Cell Differentiation (Vol. 60, pp. 257-279). (Results and Problems in Cell Differentiation; Vol. 60). Springer Verlag. https://doi.org/10.1007/978-3-319-51436-9_10