15-6-10　ⓔ文献

  1. Logan CV, Murray JE, et al: DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency. Am J Hum Genet, 2018; 103: 1038–1044.

  2. Narumi S, Amano N, et al: SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet, 2016; 48: 792–797.

  3. Lovric S, Goncalves S, et al: Mutations in sphingosine–1–phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest, 2017; 127: 912–928.

  4. Prasad R, Hadjidemetriou I, et al: Sphingosine–1–phosphate lyase mutations cause primary adrenal insufficiency and steroid–resistant nephrotic syndrome. J Clin Invest, 2017; 127: 942–953.

  5. Ishii T, Hori N, et al: Pubertal and adult testicular function in nonclassic lipoid congenital adrenal hyperplasia: A case series and review. J Endocr Soc, 2019; 16: 1367–1374.

  6. Hatabu N, Amano N, et al: Pubertal development and pregnancy outcomes in 46,XX patients with nonclassic lipoid congenital adrenal hyperplasia. J Clin Endocrinol Metab 2019; 104: 1866–1870.