Marion Aubert-Mucca

9PUBLICATIONS
38CO-AUTHORS
Medical mycologyEpigenetics (incl. genome methylation and epigenomics)Molecular targetsAutonomic nervous systemCardiology (incl. cardiovascular diseases)
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Publications (9)

|Jul 07, 2026
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

|Dec 03, 2025
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

Marion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy

|Mar 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.

Silvestre Cuinat, Nicolas Chatron, Florence Petit

|Mar 23, 2023
Clinical heterogeneity of NADSYN1-associated VCRL syndrome.

Marion Aubert-Mucca, Caroline Janel, Valérie Porquet-Bordes

|Aug 04, 2022
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.

Marion Aubert-Mucca, Céline Huber, Genevieve Baujat

|Feb 16, 2022
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

Bertrand Chesneau, Marion Aubert-Mucca, Félix Fremont

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Frequent Collaborators

2 joint publications

Gaetan Lesca

2 joint publications

Tania Attie-Bitach

2 joint publications

Bertrand Chesneau

1 joint publications

Julien Buratti