Prenatal diagnosis and genetic counseling of complete uniparental isodisomy of chromosome 3 with no phenotypic abnormalities
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology
Reference6 articles.
1. A new genetic concept: uniparental disomy and its potential effect, isodisomy;Engel;Am J Med Genet,1980
2. Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities;Hiva;J Invest Dermatol,2006
3. Paternal isodisomy of chromosome 3 Unmasked by Autosomal recessive Microcoria-congenital Nephrosis Syndrome (Pierson Syndrome) in a child with no other phenotypic abnormalities;Verena;Am J Med Genet,2011
4. Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders;Peng;Hum Mutat,2006
5. Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype;Li;Exp Ther Med,2016
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