Lipoid Proteinosis of Urbach and WiethePneumonia, LipidLipidsMineral OilLipidosesAdrenal Hyperplasia, CongenitalLipid Metabolism46, XY Disorders of Sex DevelopmentNephrosis, LipoidLipid AGonadal Dysgenesis, 46,XXLipid BilayersParaffinHoarsenessLipid PeroxidationGonadal Dysgenesis, 46,XYFrameshift MutationAcneiform EruptionsCholesterol Side-Chain Cleavage EnzymeLipid PeroxidesCodon, NonsenseRadiography, ThoracicExtracellular Matrix ProteinsConsanguinityBronchoalveolar LavagePhosphoproteinsMutation, MissensePhospholipidsCholesterolMembrane MicrodomainsSkin