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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.

Authors :
Veazey RA
Fisher AJ
Talati AN
Hardisty E
Gilmore KL
Vora NL
Source :
Prenatal diagnosis [Prenat Diagn] 2024 Oct 10. Date of Electronic Publication: 2024 Oct 10.
Publication Year :
2024
Publisher :
Ahead of Print

Details

Language :
English
ISSN :
1097-0223
Database :
MEDLINE
Journal :
Prenatal diagnosis
Publication Type :
Academic Journal
Accession number :
39389935
Full Text :
https://doi.org/10.1002/pd.6683