AustralieFrV1, Main, Exploration, bibRecord, 005B00

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Identifieur interne : 005B00 ( Main/Exploration ); précédent : 005A99; suivant : 005B01

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Auteurs : Isabelle Perrault [France] ; Sophie Saunier [France] ; Sylvain Hanein [France] ; Emilie Filhol [France] ; Albane A. Bizet [France] ; Felicity Collins [Australie] ; Mustafa A. M. Salih [Arabie saoudite] ; Sylvie Gerber [France] ; Nathalie Delphin [France] ; Karine Bigot [France] ; Christophe Orssaud [France] ; Eduardo Silva [Portugal] ; Véronique Baudouin [France] ; Machteld M. Oud [Pays-Bas] ; Nora Shannon [Royaume-Uni] ; Martine Le Merrer [France] ; Olivier Roche [France] ; Christine Pietrement [France] ; Jamal Goumid [France] ; Clarisse Baumann [France] ; Christine Bole-Feysot [France] ; Patrick Nitschke [France] ; Mohammed Zahrate [France] ; Philip Beales [Royaume-Uni] ; Heleen H. Arts [Pays-Bas] ; Arnold Munnich [France] ; Josseline Kaplan [France] ; Corinne Antignac [France] ; Valérie Cormier-Daire [France] ; Jean-Michel Rozet [France]

Source :

American journal of human genetics [ 0002-9297 ] ; 2012.

RBID : Pascal:12-0208921

Descripteurs français

Pascal (Inist)
- Mutation, Génétique, Homme.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Genetics, Human, Mutation.

Abstract

Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (1FT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376548

Affiliations:

Arabie saoudite, Australie, France, Pays-Bas, Portugal, Royaume-Uni
Angleterre, Champagne-Ardenne, Grand Est, Grand Londres, Gueldre, Île-de-France
Londres, Nimègue, Paris, Reims
University College de Londres

Le document en format XML

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<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations</title>
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</author>
<author><name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name>
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<placeName><region type="region" nuts="2">Île-de-France</region>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Hanein, Sylvain" sort="Hanein, Sylvain" uniqKey="Hanein S" first="Sylvain" last="Hanein">Sylvain Hanein</name>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Filhol, Emilie" sort="Filhol, Emilie" uniqKey="Filhol E" first="Emilie" last="Filhol">Emilie Filhol</name>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Bizet, Albane A" sort="Bizet, Albane A" uniqKey="Bizet A" first="Albane A." last="Bizet">Albane A. Bizet</name>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Clinical Genetics, Children's Hospital at Westmead</s1>
<s2>Sydney, NSW 2145</s2>
<s3>AUS</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Australie</country>
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</affiliation>
</author>
<author><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name>
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<s2>Riyadh 11461</s2>
<s3>SAU</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Arabie saoudite</country>
<wicri:noRegion>Riyadh 11461</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gerber, Sylvie" sort="Gerber, Sylvie" uniqKey="Gerber S" first="Sylvie" last="Gerber">Sylvie Gerber</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>INSERM, U781 & Department of Genetics, Paris Descartes University</s1>
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</inist:fA14>
<country>France</country>
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<placeName><settlement type="city">Paris</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Delphin, Nathalie" sort="Delphin, Nathalie" uniqKey="Delphin N" first="Nathalie" last="Delphin">Nathalie Delphin</name>
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</inist:fA14>
<country>France</country>
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<placeName><settlement type="city">Paris</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Bigot, Karine" sort="Bigot, Karine" uniqKey="Bigot K" first="Karine" last="Bigot">Karine Bigot</name>
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<s2>75015 Paris</s2>
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<country>France</country>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Orssaud, Christophe" sort="Orssaud, Christophe" uniqKey="Orssaud C" first="Christophe" last="Orssaud">Christophe Orssaud</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Ophthalmology, Paris Descartes University</s1>
<s2>75015 Paris</s2>
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<sZ>11 aut.</sZ>
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</inist:fA14>
<country>France</country>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Silva, Eduardo" sort="Silva, Eduardo" uniqKey="Silva E" first="Eduardo" last="Silva">Eduardo Silva</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Ophthalmology, Coimbra University Hospital</s1>
<s2>3000-548 Coimbra</s2>
<s3>PRT</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Portugal</country>
<wicri:noRegion>3000-548 Coimbra</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Baudouin, Veronique" sort="Baudouin, Veronique" uniqKey="Baudouin V" first="Véronique" last="Baudouin">Véronique Baudouin</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Nephrology, Centre Hospitalier Universitaire (CHU) Robert Debré</s1>
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<sZ>13 aut.</sZ>
</inist:fA14>
<country>France</country>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Oud, Machteld M" sort="Oud, Machteld M" uniqKey="Oud M" first="Machteld M." last="Oud">Machteld M. Oud</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Department of Genetics, Radboud University Nijmegen Medical Centre</s1>
<s2>6525 GA, Nijmegen</s2>
<s3>NLD</s3>
<sZ>14 aut.</sZ>
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</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Nimègue</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Shannon, Nora" sort="Shannon, Nora" uniqKey="Shannon N" first="Nora" last="Shannon">Nora Shannon</name>
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<sZ>15 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
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</affiliation>
</author>
<author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U781 & Department of Genetics, Paris Descartes University</s1>
<s2>75015 Paris</s2>
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</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Roche, Olivier" sort="Roche, Olivier" uniqKey="Roche O" first="Olivier" last="Roche">Olivier Roche</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Ophthalmology, Paris Descartes University</s1>
<s2>75015 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
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</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pietrement, Christine" sort="Pietrement, Christine" uniqKey="Pietrement C" first="Christine" last="Pietrement">Christine Pietrement</name>
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<s2>51092 Reims</s2>
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<sZ>18 aut.</sZ>
</inist:fA14>
<country>France</country>
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<region type="old region" nuts="2">Champagne-Ardenne</region>
<settlement type="city">Reims</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goumid, Jamal" sort="Goumid, Jamal" uniqKey="Goumid J" first="Jamal" last="Goumid">Jamal Goumid</name>
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<s2>75019 Paris</s2>
<s3>FRA</s3>
<sZ>19 aut.</sZ>
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</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name>
<affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Department of Genetics, CHU Robert Debré</s1>
<s2>75019 Paris</s2>
<s3>FRA</s3>
<sZ>19 aut.</sZ>
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</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name>
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<s2>75015 Paris</s2>
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</inist:fA14>
<country>France</country>
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<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name>
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<s2>75015 Paris</s2>
<s3>FRA</s3>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>France</country>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Zahrate, Mohammed" sort="Zahrate, Mohammed" uniqKey="Zahrate M" first="Mohammed" last="Zahrate">Mohammed Zahrate</name>
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<s2>75015 Paris</s2>
<s3>FRA</s3>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Beales, Philip" sort="Beales, Philip" uniqKey="Beales P" first="Philip" last="Beales">Philip Beales</name>
<affiliation wicri:level="4"><inist:fA14 i1="15"><s1>Molecular Medicine Unit, University College London (UCL) Institute of Child Health</s1>
<s2>London WC1N 1EH</s2>
<s3>GBR</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">University College de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Arts, Heleen H" sort="Arts, Heleen H" uniqKey="Arts H" first="Heleen H." last="Arts">Heleen H. Arts</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Department of Genetics, Radboud University Nijmegen Medical Centre</s1>
<s2>6525 GA, Nijmegen</s2>
<s3>NLD</s3>
<sZ>14 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName><settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
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</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kaplan, Josseline" sort="Kaplan, Josseline" uniqKey="Kaplan J" first="Josseline" last="Kaplan">Josseline Kaplan</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U781 & Department of Genetics, Paris Descartes University</s1>
<s2>75015 Paris</s2>
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<sZ>1 aut.</sZ>
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</inist:fA14>
<country>France</country>
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<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name>
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</inist:fA14>
<country>France</country>
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<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U781 & Department of Genetics, Paris Descartes University</s1>
<s2>75015 Paris</s2>
<s3>FRA</s3>
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</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rozet, Jean Michel" sort="Rozet, Jean Michel" uniqKey="Rozet J" first="Jean-Michel" last="Rozet">Jean-Michel Rozet</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>INSERM, U781 & Department of Genetics, Paris Descartes University</s1>
<s2>75015 Paris</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>26 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetics</term>
<term>Human</term>
<term>Mutation</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Mutation</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (1FT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells.</div>
</front>
</TEI>
<affiliations><list><country><li>Arabie saoudite</li>
<li>Australie</li>
<li>France</li>
<li>Pays-Bas</li>
<li>Portugal</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Champagne-Ardenne</li>
<li>Grand Est</li>
<li>Grand Londres</li>
<li>Gueldre</li>
<li>Île-de-France</li>
</region>
<settlement><li>Londres</li>
<li>Nimègue</li>
<li>Paris</li>
<li>Reims</li>
</settlement>
<orgName><li>University College de Londres</li>
</orgName>
</list>
<tree><country name="France"><region name="Île-de-France"><name sortKey="Perrault, Isabelle" sort="Perrault, Isabelle" uniqKey="Perrault I" first="Isabelle" last="Perrault">Isabelle Perrault</name>
</region>
<name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name>
<name sortKey="Baudouin, Veronique" sort="Baudouin, Veronique" uniqKey="Baudouin V" first="Véronique" last="Baudouin">Véronique Baudouin</name>
<name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name>
<name sortKey="Bigot, Karine" sort="Bigot, Karine" uniqKey="Bigot K" first="Karine" last="Bigot">Karine Bigot</name>
<name sortKey="Bizet, Albane A" sort="Bizet, Albane A" uniqKey="Bizet A" first="Albane A." last="Bizet">Albane A. Bizet</name>
<name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name>
<name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<name sortKey="Delphin, Nathalie" sort="Delphin, Nathalie" uniqKey="Delphin N" first="Nathalie" last="Delphin">Nathalie Delphin</name>
<name sortKey="Filhol, Emilie" sort="Filhol, Emilie" uniqKey="Filhol E" first="Emilie" last="Filhol">Emilie Filhol</name>
<name sortKey="Gerber, Sylvie" sort="Gerber, Sylvie" uniqKey="Gerber S" first="Sylvie" last="Gerber">Sylvie Gerber</name>
<name sortKey="Goumid, Jamal" sort="Goumid, Jamal" uniqKey="Goumid J" first="Jamal" last="Goumid">Jamal Goumid</name>
<name sortKey="Hanein, Sylvain" sort="Hanein, Sylvain" uniqKey="Hanein S" first="Sylvain" last="Hanein">Sylvain Hanein</name>
<name sortKey="Kaplan, Josseline" sort="Kaplan, Josseline" uniqKey="Kaplan J" first="Josseline" last="Kaplan">Josseline Kaplan</name>
<name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name>
<name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name>
<name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name>
<name sortKey="Orssaud, Christophe" sort="Orssaud, Christophe" uniqKey="Orssaud C" first="Christophe" last="Orssaud">Christophe Orssaud</name>
<name sortKey="Pietrement, Christine" sort="Pietrement, Christine" uniqKey="Pietrement C" first="Christine" last="Pietrement">Christine Pietrement</name>
<name sortKey="Roche, Olivier" sort="Roche, Olivier" uniqKey="Roche O" first="Olivier" last="Roche">Olivier Roche</name>
<name sortKey="Rozet, Jean Michel" sort="Rozet, Jean Michel" uniqKey="Rozet J" first="Jean-Michel" last="Rozet">Jean-Michel Rozet</name>
<name sortKey="Saunier, Sophie" sort="Saunier, Sophie" uniqKey="Saunier S" first="Sophie" last="Saunier">Sophie Saunier</name>
<name sortKey="Zahrate, Mohammed" sort="Zahrate, Mohammed" uniqKey="Zahrate M" first="Mohammed" last="Zahrate">Mohammed Zahrate</name>
</country>
<country name="Australie"><noRegion><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name>
</noRegion>
</country>
<country name="Arabie saoudite"><noRegion><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name>
</noRegion>
</country>
<country name="Portugal"><noRegion><name sortKey="Silva, Eduardo" sort="Silva, Eduardo" uniqKey="Silva E" first="Eduardo" last="Silva">Eduardo Silva</name>
</noRegion>
</country>
<country name="Pays-Bas"><region name="Gueldre"><name sortKey="Oud, Machteld M" sort="Oud, Machteld M" uniqKey="Oud M" first="Machteld M." last="Oud">Machteld M. Oud</name>
</region>
<name sortKey="Arts, Heleen H" sort="Arts, Heleen H" uniqKey="Arts H" first="Heleen H." last="Arts">Heleen H. Arts</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Shannon, Nora" sort="Shannon, Nora" uniqKey="Shannon N" first="Nora" last="Shannon">Nora Shannon</name>
</noRegion>
<name sortKey="Beales, Philip" sort="Beales, Philip" uniqKey="Beales P" first="Philip" last="Beales">Philip Beales</name>
</country>
</tree>
</affiliations>
</record>

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Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

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