Tory, Kálmán; Karancsiné Menyhárd, Dóra; Woerner S; Nevo F; Gribouval O; Kerti, Andrea; Straner P; Arrondel C; Cong EH; Tulassay, Tivadar; Mollet G; Perczel, András; Antignac C
(2014)
Monogenic disorders result from defects in a single gene. According to Mendel's laws, these disorders are inherited in either a recessive or dominant fashion. Autosomal-recessive disorders require a disease-causing variant ...