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Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.

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Title: Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
Authors: Coulie, Richard1, richard.coulie@uclouvain.be, Niyazov, Dmitriy M.2, Gambello, Michael J.3, Fastré, Elodie1, Brouillard, Pascal1, Vikkula, Miikka1,4, miikka.vikkula@uclouvain.be
Source: American Journal of Medical Genetics. Part A; Jul2021, Vol. 185 Issue 7, p2153-2159, 7p
Database: Applied Science & Technology Source
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Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 150942965
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
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  Data: <searchLink fieldCode="AU" term="%22Coulie%2C+Richard%22">Coulie, Richard</searchLink><relatesTo>1</relatesTo>, <i>richard.coulie@uclouvain.be</i><br /><searchLink fieldCode="AU" term="%22Niyazov%2C+Dmitriy+M%2E%22">Niyazov, Dmitriy M.</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Gambello%2C+Michael+J%2E%22">Gambello, Michael J.</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AU" term="%22Fastré%2C+Elodie%22">Fastré, Elodie</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Brouillard%2C+Pascal%22">Brouillard, Pascal</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Vikkula%2C+Miikka%22">Vikkula, Miikka</searchLink><relatesTo>1,4</relatesTo>, <i>miikka.vikkula@uclouvain.be</i>
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  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; Jul2021, Vol. 185 Issue 7, p2153-2159, 7p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=150942965
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      – Type: doi
        Value: 10.1002/ajmg.a.62205
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      – Code: eng
        Text: English
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        PageCount: 7
        StartPage: 2153
    Titles:
      – TitleFull: Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
        Type: main
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            NameFull: Coulie, Richard
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            NameFull: Niyazov, Dmitriy M.
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            NameFull: Gambello, Michael J.
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            NameFull: Fastré, Elodie
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            NameFull: Brouillard, Pascal
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            NameFull: Vikkula, Miikka
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          Dates:
            – D: 01
              M: 07
              Text: Jul2021
              Type: published
              Y: 2021
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              Value: 185
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              Value: 7
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            – TitleFull: American Journal of Medical Genetics. Part A
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