A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis
© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd..
A novel splice site mutation in the GTPBP2 gene was identified by whole-exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.
Medienart: |
E-Artikel |
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Erscheinungsjahr: |
2021 |
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Erschienen: |
2021 |
Enthalten in: |
Zur Gesamtaufnahme - volume:9 |
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Enthalten in: |
Clinical case reports - 9(2021), 2 vom: 10. Feb., Seite 732-736 |
Sprache: |
Englisch |
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Beteiligte Personen: |
Abdi Rad, Isa [VerfasserIn] |
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Links: |
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Themen: |
Case Reports |
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Anmerkungen: |
Date Revised 19.02.2021 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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doi: |
10.1002/ccr3.3637 |
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funding: |
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Förderinstitution / Projekttitel: |
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PPN (Katalog-ID): |
NLM321570871 |
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