Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation inPORgene: Antley-bixler syndrome phenotype in three sibling fetuses-Reference-Cited by-同舟云学术

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

Published:2016-03-11 Issue:7 Volume:106 Page:536-541
ISSN:1542-0752
Container-title:Birth Defects Research Part A: Clinical and Molecular Teratology
language:en
Short-container-title:Birth Defects Research Part A: Clinical and Molecular Teratology

Author:

Tzetis Maria¹,Konstantinidou Anastasia²,Sofocleous Christalena¹³,Kosma Konstantina¹,Mitrakos Anastasios¹,Tzannatos Christina⁴,Kitsiou-Tzeli Sofia¹

Affiliation:

1. Department of Medical Genetics; Medical School, National and Kapodistrian University of Athens; Greece

2. Department of Pathology; Medical School, National and Kapodistrian University of Athens; Greece

3. Research Institute for the Study of Genetic and Malignant Diseases in Childhood, “Aghia Sophia” Childrens Hospital; Athens Greece

4. Department of Perinatal Pathology; IASO Maternity Hospital; Athens Greece

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference14 articles.

1. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome;Fluck;Nat Genet,2004

2. Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients;Fukami;J Clin Endocrinol Metab,2009

3. Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects;Fukami;Pediatr Int,2014

4. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis;Huang;Am J Hum Genet,2005

5. Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus;Kitsiou-Tzeli;Birth Defects Res A Clin Mol Teratol,2012

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