Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.

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Title: Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.
Authors: Chikhaoui, Asma1 (AUTHOR), Kraoua, Ichraf1,2 (AUTHOR), Calmels, Nadège3,4 (AUTHOR), Bouchoucha, Sami1,5 (AUTHOR), Obringer, Cathy4 (AUTHOR), Zayoud, Khouloud1 (AUTHOR), Montagne, Benjamin6 (AUTHOR), M'rad, Ridha7,8 (AUTHOR), Abdelhak, Sonia1 (AUTHOR), Laugel, Vincent4 (AUTHOR), Ricchetti, Miria6 (AUTHOR), Turki, Ilhem2 (AUTHOR), Yacoub-Youssef, Houda1 (AUTHOR) houda.yacoub@pasteur.utm.tn
Source: Orphanet Journal of Rare Diseases. 3/5/2022, Vol. 17 Issue 1, p1-14. 14p.
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  Data: Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.
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  Data: <searchLink fieldCode="AR" term="%22Chikhaoui%2C+Asma%22">Chikhaoui, Asma</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kraoua%2C+Ichraf%22">Kraoua, Ichraf</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Calmels%2C+Nadège%22">Calmels, Nadège</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bouchoucha%2C+Sami%22">Bouchoucha, Sami</searchLink><relatesTo>1,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Obringer%2C+Cathy%22">Obringer, Cathy</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zayoud%2C+Khouloud%22">Zayoud, Khouloud</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Montagne%2C+Benjamin%22">Montagne, Benjamin</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22M'rad%2C+Ridha%22">M'rad, Ridha</searchLink><relatesTo>7,8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Abdelhak%2C+Sonia%22">Abdelhak, Sonia</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Laugel%2C+Vincent%22">Laugel, Vincent</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ricchetti%2C+Miria%22">Ricchetti, Miria</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Turki%2C+Ilhem%22">Turki, Ilhem</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yacoub-Youssef%2C+Houda%22">Yacoub-Youssef, Houda</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> houda.yacoub@pasteur.utm.tn</i>
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  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 3/5/2022, Vol. 17 Issue 1, p1-14. 14p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=155683362
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      – Type: doi
        Value: 10.1186/s13023-022-02257-1
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      – Code: eng
        Text: English
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        PageCount: 14
        StartPage: 1
    Titles:
      – TitleFull: Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.
        Type: main
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            NameFull: Chikhaoui, Asma
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            NameFull: Kraoua, Ichraf
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            NameFull: Calmels, Nadège
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            NameFull: Abdelhak, Sonia
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            – D: 05
              M: 03
              Text: 3/5/2022
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              Y: 2022
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