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Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease‐Causing Variants in TCOF1 and POLR1D.

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Title: Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease‐Causing Variants in TCOF1 and POLR1D.
Authors: Nevondwe, Patracia1 (AUTHOR), Mudau, Maria1 (AUTHOR), Seymour, Heather1 (AUTHOR), Kerr, Robyn1 (AUTHOR), Lombard, Zané1 (AUTHOR), Krause, Amanda1 (AUTHOR), Carstens, Nadia1,2 (AUTHOR) nadia.carstens@mrc.ac.za
Source: Molecular Genetics & Genomic Medicine. Sep2026, Vol. 14 Issue 9, p1-7. 7p.
Database: Academic Search Ultimate
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An: 197283705
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  Data: Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease‐Causing Variants in TCOF1 and POLR1D.
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PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=197283705
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1002/mgg3.70295
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      – Code: eng
        Text: English
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        PageCount: 7
        StartPage: 1
    Titles:
      – TitleFull: Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease‐Causing Variants in TCOF1 and POLR1D.
        Type: main
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          Name:
            NameFull: Nevondwe, Patracia
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          Name:
            NameFull: Mudau, Maria
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            NameFull: Seymour, Heather
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            NameFull: Kerr, Robyn
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            NameFull: Lombard, Zané
      – PersonEntity:
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            NameFull: Krause, Amanda
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            NameFull: Carstens, Nadia
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            – D: 01
              M: 09
              Text: Sep2026
              Type: published
              Y: 2026
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              Value: 14
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              Value: 9
          Titles:
            – TitleFull: Molecular Genetics & Genomic Medicine
              Type: main
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