S-EPMC12324731 - Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype - OmicsDI

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Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype

ABSTRACT:

SUBMITTER: Nair P

PROVIDER: S-EPMC12324731 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature