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

Auteurs

Stephanie Gobin‐Limballe, Chris Ottolenghi, Fabien Reyal, Jean‐Baptiste Arnoux, Maryse Magen, Marie Simon, Anaïs Brassier, Fabienne Jabot‐Hanin, Pascale De Lonlay, Clement Pontoizeau, Manel Guirat, Marlene Rio, Roselyne Gesny, Nadine Gigarel, Ghislaine Royer, Julie Steffann, Arnold Munnich, Jean‐Paul Bonnefont