Novel Missense Variant in the <i>SMARCD1</i> Gene as the Cause of Coffin–Siris Syndrome 11 in a Fetus With Ambiguous Genitalia and Multiple Dysmorphic Features

Dr. Allan Fisher is an employee of Variantyx Inc. The authors have nothing to report.

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Publication Details

Journal
Prenatal Diagnosis
Published
2024-10-10
DOI
https://doi.org/10.1002/pd.6683
Citations
1
Primary Topic
Chromatin Remodeling and Cancer
Type
article
Field-Weighted Citation Impact
0.23
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article

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

Neeta L. Vora, Asha N. Talati, Kelly L. Gilmore, Emily Hardisty et al.
1 citations
Prenatal Diagnosis
Chromatin Remodeling and Cancer
0.23
article

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

Neeta L. Vora, Asha N. Talati, Kelly L. Gilmore, Emily Hardisty, Allan J. Fisher, Rachel Veazey
article en
1 citations

Abstract

Dr. Allan Fisher is an employee of Variantyx Inc. The authors have nothing to report.

Prenatal DiagnosisVol. 44(12)
University of North Carolina at Chapel Hill (US)
Gender equality, Zero hunger
Openalex Percentile: Top 42%
Chromatin Remodeling and Cancer
0.23
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