OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

Author:

Gobin‐Limballe Stephanie1,Ottolenghi Chris23,Reyal Fabien14,Arnoux Jean‐Baptiste56,Magen Maryse1,Simon Marie1,Brassier Anaïs56,Jabot‐Hanin Fabienne78,Lonlay Pascale De56,Pontoizeau Clement23,Guirat Manel1,Rio Marlene9,Gesny Roselyne1,Gigarel Nadine1,Royer Ghislaine1,Steffann Julie13,Munnich Arnold39,Bonnefont Jean‐Paul13

Affiliation:

1. Molecular Genetics Department, Necker Hospital APHP Centre‐Paris University Paris France

2. Metabolomic and Proteomic Biochemistry Department, Necker Hospital APHP Centre‐ Paris University Paris France

3. INSERM UMR1163, Institut Imagine Paris University Paris France

4. Breast Gynecologic Cancer Reconstructive Team, Institut Curie Paris University Paris France

5. Inherited Metabolic Disease Department and National Reference Centre for Inherited Metabolic diseases, Necker Hospital APHP Centre‐Paris University Paris France

6. INSERM U1151, INEM Paris University Paris France

7. Bioinformatics Platform Paris University, INSERM UMR1163, Institut Imagine Paris France

8. Structure Federative de Recherche Necker INSERM US24/CNRS UMS3633 Paris France

9. Clinical Genetics Department, Necker Hospital APHP Centre‐Paris University Paris France

Funder

Assistance Publique - Hôpitaux de Paris

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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