Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes-Reference-Cited by-同舟云学术

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes

Published:2021-08-06 Issue:12 Volume:185 Page:3762-3769
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Strong Alanna¹²^ORCID,Skraban Cara¹³^ORCID,Meyers Kevin³⁴,Amaral Sandra³⁴,Furth Susan³⁴,Drant Stacey³⁵,Hsiao Wendy⁴,Galea Lauren⁴,Gold Jessica¹,Gold Nina B.⁶⁷,Leonard Jacqueline¹,Lopez Sonya⁴,Zackai Elaine H.¹³,Pyeritz Reed E.⁸

Affiliation:

1. Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. The Center for Applied Genomics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Department of Pediatrics Perelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania USA

4. Division of Nephrology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

5. Division of Cardiology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

6. Division of Medical Genetics and Metabolism Massachusetts General Hospital Boston Massachusetts USA

7. Department of Pediatrics Harvard Medical School Boston Massachusetts USA

8. Division of Translational Medicine and Human Genetics Perelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62449

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4. Profiling conserved biological pathways in Autosomal Dominant Polycystic Kidney Disorder (ADPKD) to elucidate key transcriptomic alterations regulating cystogenesis: A cross-species meta-analysis approach

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