@article{7b3c4bff556540b0b50d82dde1385e7e,
title = "Clinical Features Associated with Copy Number Variations of the 14q32 Imprinted Gene Cluster",
author = "{Descartes, et al}, Maria and Maria Descartes",
note = "Uniparental disomy (UPD) for imprinted chromosomes can cause abnormal phenotypes due to absent or overexpression of imprinted genes. UPD(14)pat causes a unique constellation of features including thoracic skeletal anomalies, polyhydramnios, placentomegaly, and limited survival; its hypothesized cause is overexpression of paternally expressed RTL1, due to absent regulatory effects of maternally expressed RTL1as.",
year = "2015",
language = "American English",
volume = "167A",
journal = "American Journal of Medical Genetics",
}