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A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments.

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Title: A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Authors: Li, Qing1 (AUTHOR), Wu, Yichi1 (AUTHOR), Meng, Fucheng1 (AUTHOR), Li, Zhuxi1 (AUTHOR), Zhan, Di1 (AUTHOR), Luo, Xiaoping1,2 (AUTHOR) xpluo@tjh.tjmu.edu.cn
Source: Orphanet Journal of Rare Diseases. 12/18/2024, Vol. 19 Issue 1, p1-13. 13p.
Database: Academic Search Ultimate
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DbLabel: Academic Search Ultimate
An: 182201644
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PubType: Academic Journal
PubTypeId: academicJournal
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  Label: Title
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  Data: A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments.
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  Data: <searchLink fieldCode="AR" term="%22Li%2C+Qing%22">Li, Qing</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wu%2C+Yichi%22">Wu, Yichi</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Meng%2C+Fucheng%22">Meng, Fucheng</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Li%2C+Zhuxi%22">Li, Zhuxi</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhan%2C+Di%22">Zhan, Di</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Luo%2C+Xiaoping%22">Luo, Xiaoping</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> xpluo@tjh.tjmu.edu.cn</i>
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  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 12/18/2024, Vol. 19 Issue 1, p1-13. 13p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=182201644
RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.1186/s13023-024-03430-4
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      – Code: eng
        Text: English
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        PageCount: 13
        StartPage: 1
    Titles:
      – TitleFull: A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments.
        Type: main
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          Name:
            NameFull: Li, Qing
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          Name:
            NameFull: Wu, Yichi
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            NameFull: Meng, Fucheng
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            NameFull: Li, Zhuxi
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            NameFull: Zhan, Di
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            NameFull: Luo, Xiaoping
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            – D: 18
              M: 12
              Text: 12/18/2024
              Type: published
              Y: 2024
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              Value: 17501172
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              Value: 19
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            – TitleFull: Orphanet Journal of Rare Diseases
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