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Prenat Diagn2024;44(12):1522-1525.November 1, 2024Case Reports

Novel Missense Variant in the SMARCD1 Gene as the Cause of Coffin-Siris Syndrome 11 in a Fetus With Ambiguous Genitalia and Multiple Dysmorphic Features.

Rachel A Veazey1, Allan J Fisher2, Asha N Talati1, Emily Hardisty1, Kelly L Gilmore1, Neeta L Vora1
1Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
2Variantyx, Inc., Framingham, Massachusetts, USA.
PubMed PMC DOI PDF

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