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
Roifman syndrome: a description of further immunological and radiological features
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-249109
Abstract: Roifman syndrome is a rare autosomal recessive inherited syndromic immunodeficiency. We wish to add to the available literature by reporting two brothers with clinical, radiological and immunological features of Roifman syndrome, confirmed on whole exome… read more here.
Keywords: radiological features; immunological radiological; syndrome description; description immunological ... See more keywords