论文信息 - Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys) - 字舞流文

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

R. Taft | A. Moore | A. Slavotinek | B. Mendelsohn | Aditi Chawla | D. Perry | Kristin E Hirabayashi | Duncan Henry