https://www.selleckchem.com/pr....oducts/Floxuridine.h
Primary microcephaly and Seckel syndrome are rare genetically and clinically heterogenous brain development disorders. Several exonic/splicing mutations are reported for these disorders to date, but ∼40% of all cases remain unexplained. We aimed to uncover the genetic correlate(s) in a family of multiple siblings with microcephaly. A novel homozygous intronic variant (NC_000013.10g.25459823TC) in CENPJ (13q12) segregating with all four affected male siblings was identified by exome sequencing and validated by targeted linkage ap
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