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

Prenat Diagn. 2024 Oct 10. doi: 10.1002/pd.6683. Online ahead of print.

Authors

Rachel A Veazey¹, Allan J Fisher², Asha N Talati¹, Emily Hardisty¹, Kelly L Gilmore¹, Neeta L Vora¹

Affiliations

¹ Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
² Variantyx, Inc., Framingham, Massachusetts, USA.

PMID: 39389935
DOI: 10.1002/pd.6683

No abstract available

Keywords: Coffin Siris syndrome; SMARCD1; ambiguous genitalia; prenatal; whole genome sequencing.

Publication types

Case Reports

Grants and funding

R01 HD105868/HD/NICHD NIH HHS/United States