AustralieFrV1, Main, Exploration, bibRecord, 008C83

Hypophosphatasia : molecular testing of 19 prenatal cases and discussion about genetic counseling

Identifieur interne : 008C83 ( Main/Exploration ); précédent : 008C82; suivant : 008C84

Hypophosphatasia : molecular testing of 19 prenatal cases and discussion about genetic counseling

Auteurs : Brigitte Simon-Bony [France] ; Agnès Taillandier [France] ; Delphine Fauvert [France] ; Isabelle Brun-Heath [France] ; Jean-Louis Serre [France] ; Carmen G. Armengod [Espagne] ; Martin G. Bialer [États-Unis] ; Michele Mathieu [France] ; Jacques Cousin [France] ; David Chitayat [Canada] ; Jan Liebelt [Australie] ; Barbara Feldman [États-Unis] ; Marion Gerard-Blanluet [France] ; Stefani Kortge-Jung [Allemagne] ; Cath King [Royaume-Uni] ; Hannele Laivuori [Finlande] ; Martine Le Merrer [France] ; Sarju Mehta [Royaume-Uni] ; Christina Jern [Suède] ; Saba Sharif [Royaume-Uni] ; Fabienne Prieur [France] ; Gabriele Gillessen-Kaesbach [Allemagne] ; Andreas Zankl [Australie] ; Etienne Mornet [France]

Source :

Prenatal diagnosis [ 0197-3851 ] ; 2008.

RBID : Pascal:08-0532243

Descripteurs français

Pascal (Inist)
- Hypophosphatasie, Biologie moléculaire, Exploration ultrason, Echographie, Prénatal, Conseil génétique, Ultrason, Périnatal, Mutation, Alkaline phosphatase, Génétique, Gynécologie, Néonatologie.
Wicri :
- topic : Génétique, Gynécologie.

English descriptors

KwdEn :
- Alkaline phosphatase, Echography, Genetic counseling, Genetics, Gynecology, Hypophosphatasia, Molecular biology, Mutation, Neonatology, Perinatal, Prenatal, Sonography, Ultrasound.

Abstract

Objective We studied hypophosphatasia (HP) mutations in 19 cases prenatally detected by ultrasonography without familial history of HP. We correlated the mutations with the reported ultrasound signs, and discussed genetic counseling with regard to the particular dominantly inherited prenatal benign form of HP. Method The coding sequence of the tissue nonspecific alkaline phosphatase (TNSALP) gene was analyzed by DNA sequencing, and 3D modeling was used to locate the mutated amino acids with regard to the functional domains of TNSALP. Results Although reported ultrasound signs were heterogeneous, two mutated alleles were found in 18 of the 19 cases studied, indicating recessive transmission of the disease. Functional domains of TNSALP were affected by 74% of missense mutations. In all the cases, including one with only a heterozygous mutation, molecular, biological, and familial data do not corroborate the hypothesis of prenatal benign HP. The mutation c.1133A>T observed in the prenatal benign form of HP and common in USA was not found in this series. Conclusion The results point out the prenatally detectable allelic heterogeneity of HP. The nature of the detected mutations and the evidence of recessive inheritance do not support these cases being affected with prenatal benign HP.

Affiliations:

Links toward previous steps (curation, corpus...)

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Le document en format XML

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<author><name sortKey="Kortge Jung, Stefani" sort="Kortge Jung, Stefani" uniqKey="Kortge Jung S" first="Stefani" last="Kortge-Jung">Stefani Kortge-Jung</name>
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<author><name sortKey="Jern, Christina" sort="Jern, Christina" uniqKey="Jern C" first="Christina" last="Jern">Christina Jern</name>
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<author><name sortKey="Fauvert, Delphine" sort="Fauvert, Delphine" uniqKey="Fauvert D" first="Delphine" last="Fauvert">Delphine Fauvert</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Laboratoire SESEP, Centre Hospitaller lie Versailles</s1>
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<s3>FRA</s3>
<sZ>1 aut.</sZ>
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<author><name sortKey="Brun Heath, Isabelle" sort="Brun Heath, Isabelle" uniqKey="Brun Heath I" first="Isabelle" last="Brun-Heath">Isabelle Brun-Heath</name>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Equipe EA2493, Universite de Versailles-Saint Quentin en Yvelines</s1>
<s2>Versailles</s2>
<s3>FRA</s3>
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<sZ>5 aut.</sZ>
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<region type="old region">Île-de-France</region>
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<settlement type="city">Versailles</settlement>
</placeName>
<orgName type="university">Université de Versailles-Saint-Quentin-en-Yvelines</orgName>
</affiliation>
</author>
<author><name sortKey="Serre, Jean Louis" sort="Serre, Jean Louis" uniqKey="Serre J" first="Jean-Louis" last="Serre">Jean-Louis Serre</name>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Equipe EA2493, Universite de Versailles-Saint Quentin en Yvelines</s1>
<s2>Versailles</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Versailles</settlement>
<settlement type="city">Versailles</settlement>
</placeName>
<orgName type="university">Université de Versailles-Saint-Quentin-en-Yvelines</orgName>
</affiliation>
</author>
<author><name sortKey="Armengod, Carmen G" sort="Armengod, Carmen G" uniqKey="Armengod C" first="Carmen G." last="Armengod">Carmen G. Armengod</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pediatrics, Hospital Rio Horfega</s1>
<s2>Valladolid</s2>
<s3>ESP</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Valladolid</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bialer, Martin G" sort="Bialer, Martin G" uniqKey="Bialer M" first="Martin G." last="Bialer">Martin G. Bialer</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Division of Medical Genetics, North Shore Long Island Jewish Health System, University Hospital</s1>
<s2>Manhasset</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Manhasset</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mathieu, Michele" sort="Mathieu, Michele" uniqKey="Mathieu M" first="Michele" last="Mathieu">Michele Mathieu</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Service de Cytogénétique, CHU d'Amiens</s1>
<s2>Amiens</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Hauts-de-France</region>
<region type="old region">Picardie</region>
<settlement type="city">Amiens</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cousin, Jacques" sort="Cousin, Jacques" uniqKey="Cousin J" first="Jacques" last="Cousin">Jacques Cousin</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Centie de Génétique, Hopital Saint-Antoine</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Hauts-de-France</region>
<region type="old region">Nord-Pas-de-Calais</region>
<settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name>
<affiliation wicri:level="4"><inist:fA14 i1="07"><s1>The Prenatal Diagnosis and Medical Genetics Program Mount Sinai Hospital, University of Toronto</s1>
<s2>Toronto</s2>
<s3>CAN</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
<orgName type="university">Université de Toronto</orgName>
</affiliation>
</author>
<author><name sortKey="Liebelt, Jan" sort="Liebelt, Jan" uniqKey="Liebelt J" first="Jan" last="Liebelt">Jan Liebelt</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Clinical Genetics Service, Women's and Children's Hospital</s1>
<s2>North Adelaide</s2>
<s3>AUS</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>North Adelaide</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Feldman, Barbara" sort="Feldman, Barbara" uniqKey="Feldman B" first="Barbara" last="Feldman">Barbara Feldman</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Madona Perinatal Service</s1>
<s2>Mineloa</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Madona Perinatal Service</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gerard Blanluet, Marion" sort="Gerard Blanluet, Marion" uniqKey="Gerard Blanluet M" first="Marion" last="Gerard-Blanluet">Marion Gerard-Blanluet</name>
<affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Department of Clinical Genetics, Hopital Robert Debré</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kortge Jung, Stefani" sort="Kortge Jung, Stefani" uniqKey="Kortge Jung S" first="Stefani" last="Kortge-Jung">Stefani Kortge-Jung</name>
<affiliation wicri:level="3"><inist:fA14 i1="11"><s1>Prenatal Diagnosis and Genetics, Graf-Adolf-Str 35</s1>
<s2>Düsseldorf</s2>
<s3>DEU</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Düsseldorf</region>
<settlement type="city">Düsseldorf</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="King, Cath" sort="King, Cath" uniqKey="King C" first="Cath" last="King">Cath King</name>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Clinical Genetics, Royal United Hospital</s1>
<s2>Bath</s2>
<s3>GBR</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Bath</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Laivuori, Hannele" sort="Laivuori, Hannele" uniqKey="Laivuori H" first="Hannele" last="Laivuori">Hannele Laivuori</name>
<affiliation wicri:level="1"><inist:fA14 i1="13"><s1>HUSLAB Department of Clinical Genetics, Helsinki University Central Hospital</s1>
<s2>Helsinki</s2>
<s3>FIN</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Finlande</country>
<wicri:noRegion>Helsinki</wicri:noRegion>
</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="14"><s1>Ddpartement de Génétiqlle, et Unité INSERM U-393, Hôpital Necker-Enfants Malades</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mehta, Sarju" sort="Mehta, Sarju" uniqKey="Mehta S" first="Sarju" last="Mehta">Sarju Mehta</name>
<affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Academic. Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital</s1>
<s2>Manchester</s2>
<s3>GBR</s3>
<sZ>18 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jern, Christina" sort="Jern, Christina" uniqKey="Jern C" first="Christina" last="Jern">Christina Jern</name>
<affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Department of Genetics, Sahlgrenska University Hospital</s1>
<s2>Gothenhiirg</s2>
<s3>SWE</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Suède</country>
<wicri:noRegion>Gothenhiirg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sharif, Saba" sort="Sharif, Saba" uniqKey="Sharif S" first="Saba" last="Sharif">Saba Sharif</name>
<affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Academic. Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital</s1>
<s2>Manchester</s2>
<s3>GBR</s3>
<sZ>18 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Manchester</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Service de Génétique Clinique Chromosomique et Moleculaire, CHU</s1>
<s2>St Etienne</s2>
<s3>FRA</s3>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>St Etienne</wicri:noRegion>
<wicri:noRegion>CHU</wicri:noRegion>
<wicri:noRegion>St Etienne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Institut fur Humangenetik</s1>
<s2>Luheck</s2>
<s3>DEU</s3>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Luheck</wicri:noRegion>
<wicri:noRegion>Institut fur Humangenetik</wicri:noRegion>
<wicri:noRegion>Institut fur Humangenetik</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name>
<affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Genetic Health Queensland, Royal Children's Hospital</s1>
<s2>Brisbane</s2>
<s3>AUS</s3>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mornet, Etienne" sort="Mornet, Etienne" uniqKey="Mornet E" first="Etienne" last="Mornet">Etienne Mornet</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Laboratoire SESEP, Centre Hospitaller lie Versailles</s1>
<s2>Le Chesnay</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>Le Chesnay</wicri:noRegion>
<wicri:noRegion>Centre Hospitaller lie Versailles</wicri:noRegion>
<wicri:noRegion>Le Chesnay</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Equipe EA2493, Universite de Versailles-Saint Quentin en Yvelines</s1>
<s2>Versailles</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Versailles</settlement>
<settlement type="city">Versailles</settlement>
</placeName>
<orgName type="university">Université de Versailles-Saint-Quentin-en-Yvelines</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Prenatal diagnosis</title>
<title level="j" type="abbreviated">Prenat. diagn.</title>
<idno type="ISSN">0197-3851</idno>
<imprint><date when="2008">2008</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Prenatal diagnosis</title>
<title level="j" type="abbreviated">Prenat. diagn.</title>
<idno type="ISSN">0197-3851</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alkaline phosphatase</term>
<term>Echography</term>
<term>Genetic counseling</term>
<term>Genetics</term>
<term>Gynecology</term>
<term>Hypophosphatasia</term>
<term>Molecular biology</term>
<term>Mutation</term>
<term>Neonatology</term>
<term>Perinatal</term>
<term>Prenatal</term>
<term>Sonography</term>
<term>Ultrasound</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Hypophosphatasie</term>
<term>Biologie moléculaire</term>
<term>Exploration ultrason</term>
<term>Echographie</term>
<term>Prénatal</term>
<term>Conseil génétique</term>
<term>Ultrason</term>
<term>Périnatal</term>
<term>Mutation</term>
<term>Alkaline phosphatase</term>
<term>Génétique</term>
<term>Gynécologie</term>
<term>Néonatologie</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Gynécologie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Objective We studied hypophosphatasia (HP) mutations in 19 cases prenatally detected by ultrasonography without familial history of HP. We correlated the mutations with the reported ultrasound signs, and discussed genetic counseling with regard to the particular dominantly inherited prenatal benign form of HP. Method The coding sequence of the tissue nonspecific alkaline phosphatase (TNSALP) gene was analyzed by DNA sequencing, and 3D modeling was used to locate the mutated amino acids with regard to the functional domains of TNSALP. Results Although reported ultrasound signs were heterogeneous, two mutated alleles were found in 18 of the 19 cases studied, indicating recessive transmission of the disease. Functional domains of TNSALP were affected by 74% of missense mutations. In all the cases, including one with only a heterozygous mutation, molecular, biological, and familial data do not corroborate the hypothesis of prenatal benign HP. The mutation c.1133A>T observed in the prenatal benign form of HP and common in USA was not found in this series. Conclusion The results point out the prenatally detectable allelic heterogeneity of HP. The nature of the detected mutations and the evidence of recessive inheritance do not support these cases being affected with prenatal benign HP.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Canada</li>
<li>Espagne</li>
<li>Finlande</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>Suède</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>District de Düsseldorf</li>
<li>Grand Manchester</li>
<li>Hauts-de-France</li>
<li>Nord-Pas-de-Calais</li>
<li>Ontario</li>
<li>Picardie</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Île-de-France</li>
</region>
<settlement><li>Amiens</li>
<li>Düsseldorf</li>
<li>Lille</li>
<li>Manchester</li>
<li>Paris</li>
<li>Toronto</li>
<li>Versailles</li>
</settlement>
<orgName><li>Université de Toronto</li>
<li>Université de Versailles-Saint-Quentin-en-Yvelines</li>
</orgName>
</list>
<tree><country name="France"><noRegion><name sortKey="Simon Bony, Brigitte" sort="Simon Bony, Brigitte" uniqKey="Simon Bony B" first="Brigitte" last="Simon-Bony">Brigitte Simon-Bony</name>
</noRegion>
<name sortKey="Brun Heath, Isabelle" sort="Brun Heath, Isabelle" uniqKey="Brun Heath I" first="Isabelle" last="Brun-Heath">Isabelle Brun-Heath</name>
<name sortKey="Cousin, Jacques" sort="Cousin, Jacques" uniqKey="Cousin J" first="Jacques" last="Cousin">Jacques Cousin</name>
<name sortKey="Fauvert, Delphine" sort="Fauvert, Delphine" uniqKey="Fauvert D" first="Delphine" last="Fauvert">Delphine Fauvert</name>
<name sortKey="Gerard Blanluet, Marion" sort="Gerard Blanluet, Marion" uniqKey="Gerard Blanluet M" first="Marion" last="Gerard-Blanluet">Marion Gerard-Blanluet</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="Mathieu, Michele" sort="Mathieu, Michele" uniqKey="Mathieu M" first="Michele" last="Mathieu">Michele Mathieu</name>
<name sortKey="Mornet, Etienne" sort="Mornet, Etienne" uniqKey="Mornet E" first="Etienne" last="Mornet">Etienne Mornet</name>
<name sortKey="Mornet, Etienne" sort="Mornet, Etienne" uniqKey="Mornet E" first="Etienne" last="Mornet">Etienne Mornet</name>
<name sortKey="Prieur, Fabienne" sort="Prieur, Fabienne" uniqKey="Prieur F" first="Fabienne" last="Prieur">Fabienne Prieur</name>
<name sortKey="Serre, Jean Louis" sort="Serre, Jean Louis" uniqKey="Serre J" first="Jean-Louis" last="Serre">Jean-Louis Serre</name>
<name sortKey="Taillandier, Agnes" sort="Taillandier, Agnes" uniqKey="Taillandier A" first="Agnès" last="Taillandier">Agnès Taillandier</name>
</country>
<country name="Espagne"><noRegion><name sortKey="Armengod, Carmen G" sort="Armengod, Carmen G" uniqKey="Armengod C" first="Carmen G." last="Armengod">Carmen G. Armengod</name>
</noRegion>
</country>
<country name="États-Unis"><noRegion><name sortKey="Bialer, Martin G" sort="Bialer, Martin G" uniqKey="Bialer M" first="Martin G." last="Bialer">Martin G. Bialer</name>
</noRegion>
<name sortKey="Feldman, Barbara" sort="Feldman, Barbara" uniqKey="Feldman B" first="Barbara" last="Feldman">Barbara Feldman</name>
</country>
<country name="Canada"><region name="Ontario"><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name>
</region>
</country>
<country name="Australie"><noRegion><name sortKey="Liebelt, Jan" sort="Liebelt, Jan" uniqKey="Liebelt J" first="Jan" last="Liebelt">Jan Liebelt</name>
</noRegion>
<name sortKey="Zankl, Andreas" sort="Zankl, Andreas" uniqKey="Zankl A" first="Andreas" last="Zankl">Andreas Zankl</name>
</country>
<country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Kortge Jung, Stefani" sort="Kortge Jung, Stefani" uniqKey="Kortge Jung S" first="Stefani" last="Kortge-Jung">Stefani Kortge-Jung</name>
</region>
<name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="King, Cath" sort="King, Cath" uniqKey="King C" first="Cath" last="King">Cath King</name>
</noRegion>
<name sortKey="Mehta, Sarju" sort="Mehta, Sarju" uniqKey="Mehta S" first="Sarju" last="Mehta">Sarju Mehta</name>
<name sortKey="Sharif, Saba" sort="Sharif, Saba" uniqKey="Sharif S" first="Saba" last="Sharif">Saba Sharif</name>
</country>
<country name="Finlande"><noRegion><name sortKey="Laivuori, Hannele" sort="Laivuori, Hannele" uniqKey="Laivuori H" first="Hannele" last="Laivuori">Hannele Laivuori</name>
</noRegion>
</country>
<country name="Suède"><noRegion><name sortKey="Jern, Christina" sort="Jern, Christina" uniqKey="Jern C" first="Christina" last="Jern">Christina Jern</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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	Serveur d'exploration sur les relations entre la France et l'Australie
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Hypophosphatasia : molecular testing of 19 prenatal cases and discussion about genetic counseling

Hypophosphatasia : molecular testing of 19 prenatal cases and discussion about genetic counseling

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