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

ConclusionTo the best of our knowledge, these sibling fetuses add to the few reported cases of ABS, caused by a combination of a SNV and a CNV in the POR gene. The detailed description of the pathologic and radiographic findings of second trimester fetuses affected with ABS adds novel knowledge concerning the early ABS phenotype, in lack of previous relevant reports. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc.

Source: Birth Defects Research Part A: Clinical and Molecular Teratology - March 11, 2016 Category: Perinatology & Neonatology Authors: Maria Tzetis, Anastasia Konstantinidou, Christalena Sofocleous, Konstantina Kosma, Anastasios Mitrakos, Christina Tzannatos, Sofia Kitsiou‐Tzeli Tags: Original Research Article Source Type: research