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

Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder that is caused by mutations in the KMT2A gene. This case reports a two-year-old male’s diagnosis of WDSTS via a heterozygous variant of uncertain significance (VUS) (c.11735G>A(p.Cys3912Tyr). The patient's phenotypic presen...

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Detalles Bibliográficos
Autores principales: Benítez Ríos, Fabiola A, Rodríguez-Fernández, Laura F, Arciniegas, Norma J, Santiago Cornier, Alberto, Carlo, Simón
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10168525/
https://www.ncbi.nlm.nih.gov/pubmed/37181961
http://dx.doi.org/10.7759/cureus.37330

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10168525/
https://www.ncbi.nlm.nih.gov/pubmed/37181961
http://dx.doi.org/10.7759/cureus.37330

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