Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome-Reference-Cited by-同舟云学术

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Pathogenic Presentation of a Variant of Uncertain Significance in a Puerto Rican Patient With Wiedemann-Steiner Syndrome

Published:2023-04-09 Issue: Volume: Page:
ISSN:2168-8184
Container-title:Cureus
language:en
Short-container-title:

Author:

Benítez Ríos Fabiola A,Rodríguez-Fernández Laura F,Arciniegas Norma J,Santiago Cornier Alberto,Carlo Simón

Publisher

Springer Science and Business Media LLC

Subject

Aerospace Engineering

Reference6 articles.

1. Wiedemann-Steiner syndrome: a case report;Hirst L;Clin Case Rep,2021

2. Online Mendelian Inheritance in Man, OMIM®. Accessed. January 27, 2023: https://www.omim.org.

3. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome;Sheppard SE;Am J Med Genet A,2021

4. Wiedemann-Steiner syndrome. (2023). Accessed. January 2, 2023: https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome.

5. Wiedemann-Steiner Syndrome;Shepard SE,2022

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