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Title
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Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome
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Author
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Abstract
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| ADNP syndrome, also known as the Helsmoortel-Van der Aa syndrome (HVDAS), is a neurodevelopmental disorder characterized by hypotonia, developmental delay, and intellectual disability. Diagnosis is typically made postnatally, and little is known about prenatal presentation of the disorder. We report a child who presented with intrauterine growth restriction, proportionate microcephaly, and an abnormal skull shape on fetal ultrasound. Whole exome sequencing performed on amniotic fluid cells showed a de novo pathogenic variant in the ADNP gene, corresponding to a diagnosis of ADNP syndrome. |
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Language
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English
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Source (journal)
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European journal of medical genetics. - Paris
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Publication
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Paris
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2023
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ISSN
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1769-7212
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DOI
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10.1016/J.EJMG.2023.104855
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Volume/pages
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66
:11
(2023)
, p. 1-4
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Article Reference
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104855
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ISI
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001087092000001
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Pubmed ID
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37758165
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Medium
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E-only publicatie
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Full text (Publisher's DOI)
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Full text (open access)
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Full text (publisher's version - intranet only)
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