Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Cornea"
DOI: 10.1097/ico.0000000000003281
Abstract: Purpose: The aim of this study was to report a case of Peters plus-like syndrome, which revealed to have an 8q21.11 microdeletion by copy number variation analysis using exome data. Methods: A 6-month-old Japanese boy… read more here.
Keywords: like syndrome; plus like; peters plus; 8q21 microdeletion ... See more keywords
Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of neonatal-perinatal medicine"
DOI: 10.3233/npm-1854
Abstract: We report a case of two consecutive pregnancies in the same couple presenting with very low pregnancy-associated plasma protein A (PAPP-A), with both pregnancies affected by multiple anomalies of a similar phenotype identified during mid-trimester… read more here.
Keywords: diagnosis; papp; consecutive pregnancies; diagnosis peters ... See more keywords