Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder
© 2024 The Authors. Clinical Genetics published by John Wiley & Sons Ltd..
A 5-year-old affected male had following phenotypes: autism, motor stereotypy, developmental regression, staring gaze, absent speech, and behavioral abnormality. The biochemical testing was normal and genetic testing identified a de novo pathogenic variant in ITSN1 gene in the proband. To our knowledge, this is the second report that elucidates the role of ITSN1 gene in an autosomal dominant neurodevelopmental disorder.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:105 |
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| Enthalten in: |
Clinical genetics - 105(2024), 4 vom: 25. Apr., Seite 455-456 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Liaqat, Khurram [VerfasserIn] |
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| Links: |
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| Themen: |
Autism spectrum disorder |
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| Anmerkungen: |
Date Completed 07.03.2024 Date Revised 09.04.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1111/cge.14497 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 520 | |a A 5-year-old affected male had following phenotypes: autism, motor stereotypy, developmental regression, staring gaze, absent speech, and behavioral abnormality. The biochemical testing was normal and genetic testing identified a de novo pathogenic variant in ITSN1 gene in the proband. To our knowledge, this is the second report that elucidates the role of ITSN1 gene in an autosomal dominant neurodevelopmental disorder | ||
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