Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder by Florence Roucher-Boulez, Florence Roucher-Boulez, Florence Roucher-Boulez, Florence Roucher-Boulez, Delphine Mallet, Delphine Mallet, Nicolas Chatron, Nicolas Chatron, Nicolas Chatron, Frédérique Dijoud, Daniela Brindusa Gorduza, Daniela Brindusa Gorduza, Patricia Bretones, Patricia Bretones, Yves Morel, Yves Morel, Yves Morel

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Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5) by Jordan Teoli, Jordan Teoli, Jordan Teoli, Delphine Mallet, Delphine Mallet, Lucie Renault, Claire-Lise Gay, Claire-Lise Gay, Elsa Labrune, Elsa Labrune, Elsa Labrune, Patricia Bretones, Patricia Bretones, Sandrine Giscard D’Estaing, Sandrine Giscard D’Estaing, Sandrine Giscard D’Estaing, Béatrice Cuzin, Frédérique Dijoud, Frédérique Dijoud, Frédérique Dijoud, Florence Roucher-Boulez, Florence Roucher-Boulez, Florence Roucher-Boulez, Florence Roucher-Boulez, Ingrid Plotton, Ingrid Plotton, Ingrid Plotton, Ingrid Plotton, Ingrid Plotton

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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene by Claire Goursaud, Delphine Mallet, Delphine Mallet, Alexandre Janin, Alexandre Janin, Alexandre Janin, Rita Menassa, Rita Menassa, Véronique Tardy-Guidollet, Véronique Tardy-Guidollet, Véronique Tardy-Guidollet, Gianni Russo, Anne Lienhardt-Roussie, Claudine Lecointre, Ingrid Plotton, Ingrid Plotton, Ingrid Plotton, Yves Morel, Yves Morel, Yves Morel, Florence Roucher-Boulez, Florence Roucher-Boulez, Florence Roucher-Boulez

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Testicular impairment in Primary Adrenal Insufficiency caused by Nicotinamide Nucleotide Transhydrogenase (NNT) deficiency - a case report: implication of oxidative stress and impo... by Lucile Ferreux, Yasmine Boumerdassi, Emmanuel Dulioust, Xavier Bertagna, Florence Roucher-Boulez, Mathilde Bourdon, Nicolas Thiounn, Catherine Patrat

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Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report by Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri, Florence Roucher-Boulez

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Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria by Asmahane Ladjouze, Malcolm Donaldson, Ingrid Plotton, Nacima Djenane, Kahina Mohammedi, Véronique Tardy-Guidollet, Delphine Mallet, Kamélia Boulesnane, Zair Bouzerar, Yves Morel, Florence Roucher-Boulez

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Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation by Cécily Lucas, Kay-Sara Sauter, Michael Steigert, Delphine Mallet, James Wilmouth, Julie Olabe, Ingrid Plotton, Yves Morel, Daniel Aeberli, Franca Wagner, Hans Clevers, Amit V. Pandey, Pierre Val, Florence Roucher-Boulez, Christa E. Flück

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Loss of SUMO-specific protease 2 causes isolated glucocorticoid deficiency by blocking adrenal cortex zonal transdifferentiation in mice by Damien Dufour, Typhanie Dumontet, Isabelle Sahut-Barnola, Aude Carusi, Méline Onzon, Eric Pussard, James Jr Wilmouth, Julie Olabe, Cécily Lucas, Adrien Levasseur, Christelle Damon-Soubeyrand, Jean-Christophe Pointud, Florence Roucher-Boulez, Igor Tauveron, Guillaume Bossis, Edward T. Yeh, David T. Breault, Pierre Val, Anne-Marie Lefrançois-Martinez, Antoine Martinez

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