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Compound Heterozygous PLD1 Variants in Right-Sided Heart Malformations

Somerville, C; Manshaei, R; Ding, QL; Okello, JBA; Silver, R; Chitayat, D; Thakur, V; Villemain, O; Jobling, R

Jobling, R (通讯作者),Univ Toronto, Hosp Sick Children, Ted Rogers Ctr Heart Res, Cardiac Genome Clin, Toronto, ON, Canada.;Jobling, R (通讯作者),Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Dept Paediat, Toronto, ON, Canada.;Jobling, R (通讯作者),Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, Canada.

CONGENITAL HEART DISEASE, 2023; 18 (2): 213

Abstract

We report a three-year-old male child who presented with congenital valvular defects, right ventricular malfor-mation, and initial developmental delay......

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