HIGHLIGHTS
- who: January and colleagues from the East Carolina University, United States have published the research work: Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review, in the Journal: (JOURNAL)
- what: In the present study, by next-generation sequencing on a proband with a major manifestation of delayed language development, recognition lag, hypomegasoma, and macrocephaly, the authors successfully identified the genetic etiology of this disease.
- how: To acquire a deeper understanding on the clinical and genetic features of this disease . . .
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