Bi-allelic variants in MDH2: Expanding the clinical phenotype

Ticci, C; Nesti, C; Rubegni, A; Doccini, S; Baldacci, J; Dal Canto, F; Ragni, L; Cordelli, DM; Donati, MA; Santorelli, FM

Santorelli, FM (通讯作者),IRCCS Fdn Stella Maris, Via Giacinti 2, I-56128 Pisa, Italy.

CLINICAL GENETICS, 2022; 101 (2): 260

Abstract

Bi-allelic alterations in the MDH2 gene have recently been reported in three unrelated toddlers with early-onset severe encephalopathy. Here, we descr......

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