Publications by authors named "Julia K Ehret"
Article Synopsis
- - Loss-of-function mutations in the SOX2 gene are primarily linked to eye disorders like anophthalmia and microphthalmia, but can also lead to non-ocular issues such as growth problems and developmental delays.
- - A study involving patients with intellectual disabilities, but no eye abnormalities, found no significant SOX2 mutations in 192 tested individuals, indicating SOX2 mutations are not a major cause of intellectual disability without associated eye conditions.
- - The investigation highlights how "genotype first" approaches, which analyze genetic information without prior assumptions, can reveal the broader impacts of certain genes like SOX2, showing they can be involved in conditions beyond their traditionally recognized traits.
Background: Most microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early infantile epileptic encephalopathy 4 and other seizure phenotypes.
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