Two novel variants in the POR gene causing Antley-Bixler syndrome type 2 detected prenatally in a foetus with abnormal ultrasound findings

Jana Lastuvkova, Miroslav Brestak,Pavel Votypka,Petra Peldova,Vlasta Cejnova, Lucie Liskova, Vjaceslav Harmas

EUROPEAN JOURNAL OF HUMAN GENETICS(2023)

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