Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley‐bixler syndrome phenotype in three sibling fetuses期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Anastasia Konstantinidou Konstantina Kosma Anastasios Mitrakos Christina Tzannatos Sofia Kitsiou‐Tzeli

Affiliation:	1. Department of Pathology, Medical School, National and Kapodistrian University of Athens, Greece;2. Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Greece;3. Department of Perinatal Pathology, IASO Maternity Hospital, Athens, Greece

Abstract:

Keywords:	Antley‐Bixler comparative genome hybridization copy number variations POR gene steroidogenesis