Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & amp; literature review

We report GAPO syndrome in a 3.75 year old Indian female child, who presented with some unique features such as sagittal craniosynostosis with scaphocephaly & bilateral choroid plexus cysts, alongside the core phenotype. We also report a novel frameshift variant in our patient & offer first evidence for the prenatal onset of some features.PMID:38423276 | DOI:10.1016/j.ejmg.2024.104929
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research