Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)

American Journal of Medical Genetics Part A,Volume 176, Issue 4, Page 997-1000, April 2018.

Source: American Journal of Medical Genetics Part A - March 25, 2018 Category: Genetics & Stem Cells Source Type: research