Antenatal detection of maternal unipartental disomy of chromosome 2 in a fetus with non-chromosomal, non-syndromic alobar holoprosencephaly
Author:
Affiliation:
1. Department of Obstetrics and Gynecology; Santa Clara Valley Medical Center; San Jose California
2. Department of Pediatrics; Santa Clara Valley Medical Center; San Jose California
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference13 articles.
1. Clinical findings in patients with GLI2 mutations-phenotypic variability;Bertolacini;Clin Genet,2012
2. Holoprosencephaly-polydactyly/pseudotrisomy 13: A presentation of two new cases and a review of the literature;Bous;Clin Dysmorphol,2012
3. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype;Carmichael;Clin Genet,2013
4. Teratogenesis of holoprosencephaly;Cohen;Am J Med Genet,2002
5. A novel murine allele of Intraflagellan Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus;Friedland-Little;Hum Mol Genet,2011
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5. Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations;Molecular Cytogenetics;2015-11-04
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