We report on a child with prenatal findings of increased nuchal translucency, polydramnios, ascites, and overgrowth. At birth, she presented length >97° centile, minor facial anomalies, megalencephaly, and Wolff-Parkinson-White syndrome. Whole-exome sequencing showed a pathogenic variant in the gene, but no mutations were found in pathway genes.
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393876 | PMC |
| http://dx.doi.org/10.1002/ccr3.6256 | DOI Listing |
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