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 PaolaWriting – Original Draft Preparation
;La Rosa, Maria AngelaWriting – 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.File in questo prodotto:
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