Here we report a new case with de novo heterozygous genomic variant in USP7 gene. This patient has phenotype resembling of this syndrome, confirming this new genetic syndrome, and she is the first description of pregnancy complications and cardiac involvement.

Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et al

Capra, Anna Paola
Writing – Original Draft Preparation
;
La Rosa, Maria Angela
Writing – Review & Editing
;
Briuglia, Silvana
Writing – Review & Editing
2021-01-01

Abstract

Here we report a new case with de novo heterozygous genomic variant in USP7 gene. This patient has phenotype resembling of this syndrome, confirming this new genetic syndrome, and she is the first description of pregnancy complications and cardiac involvement.
2021
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11570/3195141
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