3 Result(s)
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Article
Open AccessA novel CUL4B splice site variant in a young male exhibiting less pronounced features
Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and shor...
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Article
Open AccessA novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
A loss of function mutation in SLC9A6 (Xq26.3) is responsible for Christianson syndrome in males. We identified a novel splicing mutation (NM_006359.2:c.1141-8C>A) of SLC9A6 in a seven-year-old boy with microceph...
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Article
Open AccessTruncating mutation in NFIA causes brain malformation and urinary tract defects
Chromosome 1p32-p31 deletion syndrome involving the Nuclear factor I/A (NFIA) gene is characterized by corpus callosum hypoplasia or defects and urinary tract defects. Herein we report on a case resembling the 1p...
