Caudal regression in fetus with de novo SMARCA2 pathogenic variant
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DOI: 10.1002/pd.6627
Abstract: Nicolaides‐Baraitser syndrome (NCBRS) is a rare autosomal dominant genetic condition that is characterized by severe intellectual disability, dysmorphic facial features, short stature, sparse hair, and early onset seizures. This diagnosis is established by suggestive clinical… read more here.
Keywords: smarca2 pathogenic; pathogenic variant; caudal regression; variant ... See more keywords