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Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley‐bixler syndrome phenotype in three sibling fetuses

Citation:

Tzetis M, Konstantinidou A, Sofocleous C, Kosma K, Mitrakos A, Tzannatos C, Kitsiou‐Tzeli S. Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley‐bixler syndrome phenotype in three sibling fetuses. Birth Defects Research Part A: Clinical and Molecular Teratology. 2016;106(7):536-541.