Temple Syndrome and Kagami-Ogata Syndrome: Clinical Presentations, Genotypes, Models and Mechanisms.
Sign Up to like & getrecommendations! Published in 2020 at "Human molecular genetics"
DOI: 10.1093/hmg/ddaa133
Abstract: Temple Syndrome (TS) and Kagami-Ogata Syndrome (KOS) are imprinting disorders caused by absence or overexpression of genes within a single imprinted cluster on human chromosome 14q32. TS most frequently arises from maternal UPD14 or epimutations/deletions… read more here.
Keywords: temple syndrome; syndrome kagami; ogata syndrome; kagami ogata ... See more keywords
Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami–Ogata Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.691761
Abstract: The Kagami–Ogata syndrome (KOS) is a rare imprinting disorder with a distinct clinical phenotype. In KOS, polyhydramnios is associated with a small bell-shaped thorax and coat-hanger ribs. The genetic etiology of KOS includes paternal uniparental… read more here.
Keywords: uniparental disomy; paternal uniparental; diagnosis; ogata syndrome ... See more keywords