Publications by authors named "Elena Fryssira"
Background: Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive disorder due to mutations in the CYP27B1 gene which result in inability to generate 1,25(OH)D.
Case Presentation: An 18-month-old boy with VDDR1A presented with hypotonia and respiratory distress. He had been diagnosed 2 months earlier, having been evaluated for stunted growth, hypotonia, and delayed developmental milestones.
Article Synopsis
- Fanconi anemia (FA) is a rare genetic disorder with 15 subtypes, and most cases are linked to mutations in the FANCA gene.
- A study of 166 patients suspected of having FA found that 13 were diagnosed, with 62% (8 patients) belonging to the FA-A subtype.
- Researchers identified a novel point mutation in exon 26 of the FANCA gene, marking its first documentation in this context.