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Expanding the Prenatal Phenotypic Spectrum of TRPV6 Variants With Ocular Anomalies | Synapse

March 14, 2026Prenatal Diagnosis0 citations

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Expanding the Prenatal Phenotypic Spectrum of TRPV6 Variants With Ocular Anomalies

ELEdouard LeyneInserm JMJéléna MartinovicUniversité Paris-Saclay PKPeter KamenickýInserm

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The research aims to identify and describe the range of ocular anomalies associated with TRPV6 genetic variants during the prenatal period.
Analyzed genetic samples from prenatal cases
Documented clinical presentations of ocular anomalies
Conducted comparative genomic studies of TRPV6 variants
Identified new ocular anomalies linked to TRPV6 variants
Expanded the known phenotypic spectrum beyond previously documented anomalies
Provided insights that may guide prenatal counseling and interventions

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Summary What is known? What's new?

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Cite This Study

Leyne et al. (Thu,) studied this question.

synapsesocial.com/papers/69b4fc0eb39f7826a300ca0e https://doi.org/https://doi.org/10.1002/pd.70119

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4TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton2018 · 46 citations
5Human TRPV6-pathies caused by gene mutations2021 · 14 citations