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PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

Identifieur interne : 000D78 ( France/Analysis ); précédent : 000D77; suivant : 000D79

PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

Auteurs : B. Keren [France] ; A. Hadchouel [France] ; S. Saba [France] ; Y. Sznajer [France] ; D. Bonneau [France] ; B. Leheup [France] ; O. Boute [France] ; D. Gaillard [France] ; D. Lacombe [France] ; V. Layet [France] ; S. Marlin [France] ; G. Mortier [Belgique] ; A. Toutain [France] ; C. Beylot [France] ; C. Baumann [France] ; A. Verloes [France] ; H. Cavé [France]

Source :

RBID : ISTEX:39A51DA678CB7B5044F7A02972E8EE404F421158

English descriptors


Url:
DOI: 10.1136/jmg.2004.021451


Affiliations:


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ISTEX:39A51DA678CB7B5044F7A02972E8EE404F421158

Le document en format XML

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<title xml:lang="en">PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience</title>
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<name sortKey="Keren, B" sort="Keren, B" uniqKey="Keren B" first="B" last="Keren">B. Keren</name>
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<name sortKey="Gaillard, D" sort="Gaillard, D" uniqKey="Gaillard D" first="D" last="Gaillard">D. Gaillard</name>
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<name sortKey="Lacombe, D" sort="Lacombe, D" uniqKey="Lacombe D" first="D" last="Lacombe">D. Lacombe</name>
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<name sortKey="Layet, V" sort="Layet, V" uniqKey="Layet V" first="V" last="Layet">V. Layet</name>
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<title level="a" type="main" xml:lang="en">PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience</title>
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<name sortKey="Marlin, S" sort="Marlin, S" uniqKey="Marlin S" first="S" last="Marlin">S. Marlin</name>
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<term>AML, acute myeloid leukaemia</term>
<term>CMP, cardiomyopathy</term>
<term>LEOPARD syndrome</term>
<term>LS, LEOPARD syndrome</term>
<term>MVP, mitral valve prolapse</term>
<term>NS, Noonan syndrome</term>
<term>Noonan syndrome</term>
<term>PS, pulmonary stenosis</term>
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<term>lentigines</term>
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<name sortKey="Baumann, C" sort="Baumann, C" uniqKey="Baumann C" first="C" last="Baumann">C. Baumann</name>
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<name sortKey="Saba, S" sort="Saba, S" uniqKey="Saba S" first="S" last="Saba">S. Saba</name>
<name sortKey="Sznajer, Y" sort="Sznajer, Y" uniqKey="Sznajer Y" first="Y" last="Sznajer">Y. Sznajer</name>
<name sortKey="Toutain, A" sort="Toutain, A" uniqKey="Toutain A" first="A" last="Toutain">A. Toutain</name>
<name sortKey="Verloes, A" sort="Verloes, A" uniqKey="Verloes A" first="A" last="Verloes">A. Verloes</name>
</country>
<country name="Belgique">
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<name sortKey="Mortier, G" sort="Mortier, G" uniqKey="Mortier G" first="G" last="Mortier">G. Mortier</name>
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   |area=    LeHavreV1
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   |type=    RBID
   |clé=     ISTEX:39A51DA678CB7B5044F7A02972E8EE404F421158
   |texte=   PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience
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