Article
RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.
Molecular genetics and metabolism - 1 May 2025
Silverstein Sarah, Cassini Thomas, Fu Jiayu, Pusey Barbara, Macnamara Ellen, Frost F Graeme, Williams Charlotte, Huang Yan, Tifft Cynthia J, Gahl William, Malicdan May-Christine, Adams David R
Abstract excerpt
One in 10 individuals has a rare disease, with exome and genome sequencing yielding an overall diagnostic rate of approximately 30 %. RNA sequencing can augment genome analysis and improve diagnosis. We present a young woman with global developmental delay, poor growth, distinctive facial features, osteopenia, premature ovarian insufficiency, and ocular abnormalities who had non-diagnostic genome sequencing....
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