A novel <scp> <i>GNAS</i> </scp> variant presents with disorders of <scp> <i>GNAS</i> </scp> inactivation and cardiomyopathy-Reference-Cited by-同舟云学术

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A novel GNAS variant presents with disorders of GNAS inactivation and cardiomyopathy

Published:2022-03-29 Issue:7 Volume:188 Page:2147-2152
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Shelkowitz Emily¹^ORCID,Chan Christine M.²,Jones Tonya³,Nakano Stephanie J.⁴,Meeks Naomi J. L.¹

Affiliation:

1. Department of Pediatrics, Section of Clinical Genetics and Metabolism University of Colorado Aurora Colorado USA

2. Department of Pediatrics, Section of Endocrinology University of Colorado Aurora Colorado USA

3. Center for Genetics at Saint Francis Hospital Tulsa Oklahoma USA

4. Department of Pediatrics, Section of Cardiology University of Colorado Aurora Colorado USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62726

Reference22 articles.

1. Regulator of G protein signaling 10: Structure, expression and functions in cellular physiology and diseases

2. Congestive Heart Failure

3. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

4. Imprinting in Albright's hereditary osteodystrophy.

5. Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum ofGNASInactivating Mutations

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