Early Second Trimester Diagnosis of Bardet‐Biedel in a Fetus With a Novel In‐Frame Deletion Variant in <i>BBS12</i> Gene: The Phenotype Informs the Genotype

Authors

Mariachiara Bosco (ORCID: https://orcid.org/0000-0002-2109-6182)
Claudiana Olivieri (ORCID: https://orcid.org/0000-0001-6558-106X)
B. Muto
Paolo Volpe (ORCID: https://orcid.org/0000-0002-1492-8868)
Rosa Buonamassa (ORCID: https://orcid.org/0009-0008-7237-5115)
Ángela Gentile (ORCID: https://orcid.org/0009-0003-9827-5220)

Institutions

University of Verona (IT)
University of Milan (IT)
Institute of Human Genetics (PL)
Ospedale di Monfalcone (IT)
University of Bari Aldo Moro (IT)

Publication Details

Journal: Prenatal Diagnosis
Published: 2025-11-16
DOI: https://doi.org/10.1002/pd.70018
Primary Topic: Neurogenetic and Muscular Disorders Research
Type: article
Field-Weighted Citation Impact: 0.00

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article

Early Second Trimester Diagnosis of Bardet‐Biedel in a Fetus With a Novel In‐Frame Deletion Variant in BBS12 Gene: The Phenotype Informs the Genotype

Mariachiara Bosco, Claudiana Olivieri, B. Muto, Paolo Volpe et al.

Nov 16, 2025

Prenatal Diagnosis

Neurogenetic and Muscular Disorders Research

article

Early Second Trimester Diagnosis of Bardet‐Biedel in a Fetus With a Novel In‐Frame Deletion Variant in BBS12 Gene: The Phenotype Informs the Genotype

Mariachiara Bosco, Claudiana Olivieri, B. Muto, Paolo Volpe, Rosa Buonamassa, Ángela Gentile

November 16, 2025article en

Abstract

No abstract available for this paper.

Prenatal DiagnosisVol. 45(13)

University of Verona (IT), University of Milan (IT), Institute of Human Genetics (PL), Ospedale di Monfalcone (IT), University of Bari Aldo Moro (IT)

Openalex Percentile: Top 50%

Neurogenetic and Muscular Disorders Research

DOI Source OpenAlex

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