3q29 microduplication syndrome: New evidence for the refinement of the critical region
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2130
Abstract: The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurodevelopmental phenotype usually involving a genomic region ranging from 1.6 to 1.76 Mb. A small microduplication of 448.8 Kb containing only two… read more here.
Keywords: syndrome new; microduplication syndrome; microduplication; critical region ... See more keywords
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.02.011
Abstract: Heterogeneous clinical and neuropsychological features, such as intellectual disability, developmental and language delay, hypotonia, and, to a lesser extent, microcephaly that is present in about the half of the reported patients, characterize the 3q29 microduplication… read more here.
Keywords: microduplication syndrome; 3q29 microduplication; microduplication; syndrome description ... See more keywords