Kongenitales nephrotisches Syndrom vom Typ 14

Ram N et al. (2012) A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis.

Schreyer-Shafir N et al. (2014) Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease.

Lovric S et al. (2017) Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Prasad R et al. (2017) Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.

Janecke AR et al. (2017) Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.