Search Results - "Kratochwila, C"

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    Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra-Cerebral Malformations by Kratochwila, C, Pomar, L, Lebon, S, Gengler, C, Pavlidou, D C, Good, J-M, Kumps, C, Sichitiu, J

    Published in Prenatal diagnosis (01-11-2024)
    “…Warsaw Breakage Syndrome (WABS) is a rare autosomal recessive cohesinopathy characterized by growth retardation and congenital anomalies. This report aims to…”
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    Journal Article