Last Updated: 09/26/2026
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Found 3 publications
Generation of a hiPSC from a patient with an ITSN1-associated neurodevelopmental disorder spectrum carrying biallelic c.2893_2894insA (p.Tyr965Ter) genetic variant.
Journal: Stem cell research
Published: May 22, 2026
Autistic traits at neurodevelopmental assessment for very preterm infants.
Journal: Irish medical journal
Published: October 04, 2023
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.
Journal: American journal of medical genetics. Part A
Published: January 11, 2023
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Last Updated: 09/26/2026