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
- 10 October 2024
- journal article
- editorial
- Published by Wiley in Prenatal Diagnosis
- Vol. 44 (12) , 1522-1525
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
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- Prenatal diagnosis of Coffin‐Siris syndrome: What are the fetal features?Prenatal Diagnosis, 2022
- Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortGenetics in Medicine, 2022
- A clinically validated whole genome pipeline for structural variant detection and analysisBMC Genomics, 2019
- A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in FliesThe American Journal of Human Genetics, 2019