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First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum.

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Title: First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum.
Authors: Thamissarakul, Supitcha1 (AUTHOR), Boonswang, Teeraphorn2 (AUTHOR), Lertsakulbunlue, Sethapong3 (AUTHOR), Khumsui, Siriluk4 (AUTHOR), Boonyawat, Boonchai4 (AUTHOR) b.boonyawat@pcm.ac.th, Sharma, Richa (AUTHOR) richsharma@wiley.com
Source: Case Reports in Genetics. 2/9/2026, Vol. 2026, p1-7. 7p.
Database: Academic Search Ultimate
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An: 191491505
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  Data: First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum.
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  Data: <searchLink fieldCode="AR" term="%22Thamissarakul%2C+Supitcha%22">Thamissarakul, Supitcha</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Boonswang%2C+Teeraphorn%22">Boonswang, Teeraphorn</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lertsakulbunlue%2C+Sethapong%22">Lertsakulbunlue, Sethapong</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Khumsui%2C+Siriluk%22">Khumsui, Siriluk</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Boonyawat%2C+Boonchai%22">Boonyawat, Boonchai</searchLink><relatesTo>4</relatesTo> (AUTHOR)<i> b.boonyawat@pcm.ac.th</i><br /><searchLink fieldCode="AR" term="%22Sharma%2C+Richa%22">Sharma, Richa</searchLink> (AUTHOR)<i> richsharma@wiley.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Case+Reports+in+Genetics%22">Case Reports in Genetics</searchLink>. 2/9/2026, Vol. 2026, p1-7. 7p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=191491505
RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.1155/crig/9550632
    Languages:
      – Code: eng
        Text: English
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        PageCount: 7
        StartPage: 1
    Titles:
      – TitleFull: First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum.
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          Name:
            NameFull: Thamissarakul, Supitcha
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            NameFull: Boonswang, Teeraphorn
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            NameFull: Lertsakulbunlue, Sethapong
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            NameFull: Khumsui, Siriluk
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            NameFull: Boonyawat, Boonchai
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            NameFull: Sharma, Richa
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            – D: 09
              M: 02
              Text: 2/9/2026
              Type: published
              Y: 2026
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              Value: 2026
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            – TitleFull: Case Reports in Genetics
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