Work

A Novel PPP1R12A Splice‐Site Variant Identified in a Female Fetus With Perineal Hamartoma

Year: 2026

Type: article

Abstract: Key Summary What is already known about this topic? What does this study add?

Source: Prenatal Diagnosis

DOI: 10.1002/pd.70183

Authors: Shiyu Chen, Xi Tan

Institutions: Sichuan University, West China Second University Hospital of Sichuan University

Language: English

Topic: Prenatal Screening and Diagnostics

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,640

OpenAlex ID: W7161977322

FWCI:

Cites: 10

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