Work

Expanding the Prenatal Phenotypic Spectrum of TRPV6 Variants With Ocular Anomalies

Year: 2026

Type: article

Abstract: Summary What is known? What's new?

Source: Prenatal Diagnosis

DOI: 10.1002/pd.70119

Authors: Edouard Leyne, Jelena Martinovic, Peter Kamenický, Agnès Linglart, Julien Saada, Alexandra Benachi, Alexandre J. Vivanti, Jérôme Bouligand

Institutions: Inserm, Bicêtre Hospital, Physiologie et Physiopathlogie Endocriniennes, Hôpital Antoine-Béclère

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,640

OpenAlex ID: W7135086375

FWCI:

Cites: 5

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