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
Year: 2024
Type: article
Abstract: Dr. Allan Fisher is an employee of Variantyx Inc. The authors have nothing to report.
Source: Prenatal Diagnosis
DOI: 10.1002/pd.6683
Authors: Rachel A. Veazey, Allan J. Fisher, Asha N. Talati, Emily Hardisty, Kelly L. Gilmore, Neeta L. Vora
Institution: University of North Carolina at Chapel Hill
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4403285669