References
- Srivastava A. Progressive familial intrahepatic cholestasis. J Clin Exp Hepatol. 2014;4(1):25–36. doi:https://doi.org/10.1016/j.jceh.2013.10.005.
- Whitington PF, Freese DK, Alonso EM, Schwarzenberg SJ, Sharp HL. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr. 1994;18(2):134–41. doi:https://doi.org/10.1097/00005176-199402000-00003.
- Kresak JL, Walsh M. Neurofibromatosis: a review of NF1, NF2, and schwannomatosis. J Pediatr Genet. 2016;5(2):98–104. doi:https://doi.org/10.1055/s-0036-1579766.
- Csaki LS, Dwyer JR, Li X, Nguyen MH, Dewald J, Brindley DN, Lusis AJ, Yoshinaga Y, de Jong P, Fong L, et al. Lipin-1 and lipin-3 together determine adiposity in vivo. Mol Metab. 2014;3(2):145–54. doi:https://doi.org/10.1016/j.molmet.2013.11.008.
- Korf BR. Malignancy in neurofibromatosis type 1. Oncologist. 2000;5(6):477–85. doi:https://doi.org/10.1634/theoncologist.5-6-477.
- Bajor J, Garamszegi M, Grexa E, Anga B, Papp G, Bero T. Bile duct obstruction caused by neurofibroma in a patient with Recklinghausen’s disease. Orv Hetil. 2002;143:1947–50.
- Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, Kirk E, Viollet L, Rahman S, Bekri S, et al. Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. J Inherit Metab Dis. 2012;35(6):1119–28. doi:https://doi.org/10.1007/s10545-012-9461-6.
- Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, et al. Effect of inbreeding on intellectual disability revisited by trio sequencing. Clin Genet. 2019;95(1):151–9. doi:https://doi.org/10.1111/cge.13463.