Clinical Features Associated with Copy Number Variations of the 14q32 Imprinted Gene Cluster

TY - JOUR

T1 - Clinical Features Associated with Copy Number Variations of the 14q32 Imprinted Gene Cluster

AU - Descartes, et al, Maria

AU - Descartes, Maria

N1 - 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.

PY - 2015

Y1 - 2015

UR - https://pubmed.ncbi.nlm.nih.gov/25756153/

M3 - Article

VL - 167A

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

ER -