LymphedemaV1, France, Analysis, bibRecord, 000228

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

Identifieur interne : 000228 ( France/Analysis ); précédent : 000227; suivant : 000229

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

Auteurs : M. Alders [Pays-Bas] ; A. Mendola [Belgique] ; L. Adès [Australie] ; L. Al Gazali [Émirats arabes unis] ; C. Bellini [Italie] ; B. Dallapiccola [Italie] ; P. Edery [France] ; U. Frank [Allemagne] ; F. Hornshuh [Allemagne] ; S. A. Huisman [Pays-Bas] ; S. Jagadeesh [Inde] ; H. Kayserili [Turquie] ; W. T. Keng [Malaisie] ; D. Lev [Israël] ; C. E. Prada [États-Unis] ; J. R. Sampson [Royaume-Uni] ; J. Schmidtke [Allemagne] ; V. Shashi [États-Unis] ; Y. Van Bever [Pays-Bas] ; N. Van Der Aa [Belgique] ; J. M. Verhagen [Pays-Bas] ; J. B. Verheij [Pays-Bas] ; M. Vikkula [Belgique] ; R. C. Hennekam [Pays-Bas]

Source :

Molecular Syndromology [ 1661-8769 ] ; 2012.

RBID : PMC:3638933

Abstract

The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual disabilities and infrequently malformations. The syndrome is heterogeneous as mutations in the gene CCBE1 have been found responsible for the syndrome in only a subset of patients. We investigated whether it would be possible to predict the presence of a CCBE1 mutation based on phenotype by collecting clinical data of patients diagnosed with HS, with or without a CCBE1 mutation. We report here the results of 13 CCBE1 positive patients, 16 CCBE1 negative patients, who were clinically found to have classical HS, and 8 patients in whom the diagnosis was considered possible, but not certain, and in whom no CCBE1 mutation was identified. We found no statistically significant phenotypic differences between the 2 groups with the clinical HS phenotype, although the degree of lymphatic dysplasia tended to be more pronounced in the mutation positive group. We also screened 158 patients with less widespread and less pronounced forms of lymphatic dysplasia for CCBE1 mutations, and no mutation was detected in this group. Our results suggest that (1) CCBE1 mutations are present only in patients with a likely clinical diagnosis of HS, and not in patients with less marked forms of lymphatic dysplasia, and (2) that there are no major phenotypic differences between HS patients with or without CCBE1 mutations.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638933

DOI: 10.1159/000342486
PubMed: 23653581
PubMed Central: 3638933

Affiliations:

Links to Exploration step

PMC:3638933

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without <bold><italic>CCBE1</italic>
</bold>
 Mutations</title>
<author><name sortKey="Alders, M" sort="Alders, M" uniqKey="Alders M" first="M." last="Alders">M. Alders</name>
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<author><name sortKey="Al Gazali, L" sort="Al Gazali, L" uniqKey="Al Gazali L" first="L." last="Al Gazali">L. Al Gazali</name>
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<author><name sortKey="Dallapiccola, B" sort="Dallapiccola, B" uniqKey="Dallapiccola B" first="B." last="Dallapiccola">B. Dallapiccola</name>
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<wicri:regionArea>Ospedale Pediatrico Bambino Gesù, IRCCS, Rome</wicri:regionArea>
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<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Edery, P" sort="Edery, P" uniqKey="Edery P" first="P." last="Edery">P. Edery</name>
<affiliation wicri:level="3"><nlm:aff id="aff7">Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Bron, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Bron, Lyon</wicri:regionArea>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="aff8">Université Lyon 1, Inserm U1028, CNRS UMR5292, CRNL, TIGER, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Lyon 1, Inserm U1028, CNRS UMR5292, CRNL, TIGER, Lyon</wicri:regionArea>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Frank, U" sort="Frank, U" uniqKey="Frank U" first="U." last="Frank">U. Frank</name>
<affiliation wicri:level="1"><nlm:aff id="aff9">Sozialpädiatrisches Zentrum, Braunschweig, University Witten/Herdecke, Witten, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Sozialpädiatrisches Zentrum, Braunschweig, University Witten/Herdecke, Witten</wicri:regionArea>
<wicri:noRegion>Witten</wicri:noRegion>
<wicri:noRegion>Witten</wicri:noRegion>
<wicri:noRegion>Witten</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hornshuh, F" sort="Hornshuh, F" uniqKey="Hornshuh F" first="F." last="Hornshuh">F. Hornshuh</name>
<affiliation wicri:level="1"><nlm:aff id="aff10">Department of Neonatology and Pediatrics Intensive Care, Vest. Children's Hospital Datteln, University Witten/Herdecke, Witten, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neonatology and Pediatrics Intensive Care, Vest. Children's Hospital Datteln, University Witten/Herdecke, Witten</wicri:regionArea>
<wicri:noRegion>Witten</wicri:noRegion>
<wicri:noRegion>Witten</wicri:noRegion>
<wicri:noRegion>Witten</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Huisman, S A" sort="Huisman, S A" uniqKey="Huisman S" first="S. A." last="Huisman">S. A. Huisman</name>
<affiliation wicri:level="1"><nlm:aff id="aff11">Prinsenstichting, Centre for People with Intellectual Disabilities, Purmerend, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Prinsenstichting, Centre for People with Intellectual Disabilities, Purmerend</wicri:regionArea>
<wicri:noRegion>Purmerend</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jagadeesh, S" sort="Jagadeesh, S" uniqKey="Jagadeesh S" first="S." last="Jagadeesh">S. Jagadeesh</name>
<affiliation wicri:level="1"><nlm:aff id="aff12">Genetic Counselling Department, Foetal Care Research, Chennai, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Genetic Counselling Department, Foetal Care Research, Chennai</wicri:regionArea>
<wicri:noRegion>Chennai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kayserili, H" sort="Kayserili, H" uniqKey="Kayserili H" first="H." last="Kayserili">H. Kayserili</name>
<affiliation wicri:level="1"><nlm:aff id="aff13">Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul</wicri:regionArea>
<wicri:noRegion>Istanbul</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Keng, W T" sort="Keng, W T" uniqKey="Keng W" first="W. T." last="Keng">W. T. Keng</name>
<affiliation wicri:level="1"><nlm:aff id="aff14">Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia</nlm:aff>
<country xml:lang="fr">Malaisie</country>
<wicri:regionArea>Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur</wicri:regionArea>
<wicri:noRegion>Kuala Lumpur</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lev, D" sort="Lev, D" uniqKey="Lev D" first="D." last="Lev">D. Lev</name>
<affiliation wicri:level="1"><nlm:aff id="aff15">Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Institute of Medical Genetics, Wolfson Medical Center, Holon</wicri:regionArea>
<wicri:noRegion>Holon</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Prada, C E" sort="Prada, C E" uniqKey="Prada C" first="C. E." last="Prada">C. E. Prada</name>
<affiliation wicri:level="2"><nlm:aff id="aff16">Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sampson, J R" sort="Sampson, J R" uniqKey="Sampson J" first="J. R." last="Sampson">J. R. Sampson</name>
<affiliation wicri:level="1"><nlm:aff id="aff17">Institute of Medical Genetics, Cardiff, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Medical Genetics, Cardiff</wicri:regionArea>
<wicri:noRegion>Cardiff</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schmidtke, J" sort="Schmidtke, J" uniqKey="Schmidtke J" first="J." last="Schmidtke">J. Schmidtke</name>
<affiliation wicri:level="3"><nlm:aff id="aff18">Institut für Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Medizinische Hochschule Hannover, Hannover</wicri:regionArea>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Hanovre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shashi, V" sort="Shashi, V" uniqKey="Shashi V" first="V." last="Shashi">V. Shashi</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">Division of Medical Genetics, Duke University, Durham, N.C., USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Duke University, Durham, N.C.</wicri:regionArea>
<wicri:noRegion>N.C.</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Bever, Y" sort="Van Bever, Y" uniqKey="Van Bever Y" first="Y." last="Van Bever">Y. Van Bever</name>
<affiliation wicri:level="3"><nlm:aff id="aff20">Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Der Aa, N" sort="Van Der Aa, N" uniqKey="Van Der Aa N" first="N." last="Van Der Aa">N. Van Der Aa</name>
<affiliation wicri:level="1"><nlm:aff id="aff21">Department of Medical Genetics, University Hospital and University of Antwerp, Antwerp, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Medical Genetics, University Hospital and University of Antwerp, Antwerp</wicri:regionArea>
<wicri:noRegion>Antwerp</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Verhagen, J M" sort="Verhagen, J M" uniqKey="Verhagen J" first="J. M." last="Verhagen">J. M. Verhagen</name>
<affiliation wicri:level="3"><nlm:aff id="aff20">Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Verheij, J B" sort="Verheij, J B" uniqKey="Verheij J" first="J. B." last="Verheij">J. B. Verheij</name>
<affiliation wicri:level="3"><nlm:aff id="aff22">Department of Genetics, University Medical Centre Groningen, Groningen, Amsterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Genetics, University Medical Centre Groningen, Groningen, Amsterdam</wicri:regionArea>
<placeName><settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name>
<affiliation wicri:level="4"><nlm:aff id="aff2">Lab of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Lab of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff24">WELBIO-Walloon Excellence in Lifesciences and Biotechnology, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>WELBIO-Walloon Excellence in Lifesciences and Biotechnology, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
</author>
<author><name sortKey="Hennekam, R C" sort="Hennekam, R C" uniqKey="Hennekam R" first="R. C." last="Hennekam">R. C. Hennekam</name>
<affiliation wicri:level="4"><nlm:aff id="aff23">Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam</wicri:regionArea>
<placeName><settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
<settlement type="city">Amsterdam</settlement>
</placeName>
<orgName type="university">Université d'Amsterdam</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j">Molecular Syndromology</title>
<idno type="ISSN">1661-8769</idno>
<idno type="eISSN">1661-8777</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual disabilities and infrequently malformations. The syndrome is heterogeneous as mutations in the gene <italic>CCBE1</italic>
 have been found responsible for the syndrome in only a subset of patients. We investigated whether it would be possible to predict the presence of a <italic>CCBE1</italic>
 mutation based on phenotype by collecting clinical data of patients diagnosed with HS, with or without a <italic>CCBE1</italic>
 mutation. We report here the results of 13 <italic>CCBE1</italic>
 positive patients, 16 <italic>CCBE1</italic>
 negative patients, who were clinically found to have classical HS, and 8 patients in whom the diagnosis was considered possible, but not certain, and in whom no <italic>CCBE1</italic>
 mutation was identified. We found no statistically significant phenotypic differences between the 2 groups with the clinical HS phenotype, although the degree of lymphatic dysplasia tended to be more pronounced in the mutation positive group. We also screened 158 patients with less widespread and less pronounced forms of lymphatic dysplasia for <italic>CCBE1</italic>
 mutations, and no mutation was detected in this group. Our results suggest that (1) <italic>CCBE1</italic>
 mutations are present only in patients with a likely clinical diagnosis of HS, and not in patients with less marked forms of lymphatic dysplasia, and (2) that there are no major phenotypic differences between HS patients with or without <italic>CCBE1</italic>
 mutations.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>France</li>
<li>Inde</li>
<li>Israël</li>
<li>Italie</li>
<li>Malaisie</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>Turquie</li>
<li>Émirats arabes unis</li>
<li>États-Unis</li>
</country>
<region><li>Auvergne-Rhône-Alpes</li>
<li>Basse-Saxe</li>
<li>Hollande-Méridionale</li>
<li>Hollande-Septentrionale</li>
<li>Latium</li>
<li>Ohio</li>
<li>Rhône-Alpes</li>
<li>Région de Bruxelles-Capitale</li>
</region>
<settlement><li>Amsterdam</li>
<li>Bruxelles</li>
<li>Hanovre</li>
<li>Louvain-la-Neuve</li>
<li>Lyon</li>
<li>Rome</li>
<li>Rotterdam</li>
</settlement>
<orgName><li>Université catholique de Louvain</li>
<li>Université d'Amsterdam</li>
</orgName>
</list>
<tree><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Alders, M" sort="Alders, M" uniqKey="Alders M" first="M." last="Alders">M. Alders</name>
</region>
<name sortKey="Hennekam, R C" sort="Hennekam, R C" uniqKey="Hennekam R" first="R. C." last="Hennekam">R. C. Hennekam</name>
<name sortKey="Huisman, S A" sort="Huisman, S A" uniqKey="Huisman S" first="S. A." last="Huisman">S. A. Huisman</name>
<name sortKey="Van Bever, Y" sort="Van Bever, Y" uniqKey="Van Bever Y" first="Y." last="Van Bever">Y. Van Bever</name>
<name sortKey="Verhagen, J M" sort="Verhagen, J M" uniqKey="Verhagen J" first="J. M." last="Verhagen">J. M. Verhagen</name>
<name sortKey="Verheij, J B" sort="Verheij, J B" uniqKey="Verheij J" first="J. B." last="Verheij">J. B. Verheij</name>
</country>
<country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Mendola, A" sort="Mendola, A" uniqKey="Mendola A" first="A." last="Mendola">A. Mendola</name>
</region>
<name sortKey="Van Der Aa, N" sort="Van Der Aa, N" uniqKey="Van Der Aa N" first="N." last="Van Der Aa">N. Van Der Aa</name>
<name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name>
<name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M." last="Vikkula">M. Vikkula</name>
</country>
<country name="Australie"><noRegion><name sortKey="Ades, L" sort="Ades, L" uniqKey="Ades L" first="L." last="Adès">L. Adès</name>
</noRegion>
</country>
<country name="Émirats arabes unis"><noRegion><name sortKey="Al Gazali, L" sort="Al Gazali, L" uniqKey="Al Gazali L" first="L." last="Al Gazali">L. Al Gazali</name>
</noRegion>
</country>
<country name="Italie"><region name="Latium"><name sortKey="Bellini, C" sort="Bellini, C" uniqKey="Bellini C" first="C." last="Bellini">C. Bellini</name>
</region>
<name sortKey="Dallapiccola, B" sort="Dallapiccola, B" uniqKey="Dallapiccola B" first="B." last="Dallapiccola">B. Dallapiccola</name>
</country>
<country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Edery, P" sort="Edery, P" uniqKey="Edery P" first="P." last="Edery">P. Edery</name>
</region>
<name sortKey="Edery, P" sort="Edery, P" uniqKey="Edery P" first="P." last="Edery">P. Edery</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Frank, U" sort="Frank, U" uniqKey="Frank U" first="U." last="Frank">U. Frank</name>
</noRegion>
<name sortKey="Hornshuh, F" sort="Hornshuh, F" uniqKey="Hornshuh F" first="F." last="Hornshuh">F. Hornshuh</name>
<name sortKey="Schmidtke, J" sort="Schmidtke, J" uniqKey="Schmidtke J" first="J." last="Schmidtke">J. Schmidtke</name>
</country>
<country name="Inde"><noRegion><name sortKey="Jagadeesh, S" sort="Jagadeesh, S" uniqKey="Jagadeesh S" first="S." last="Jagadeesh">S. Jagadeesh</name>
</noRegion>
</country>
<country name="Turquie"><noRegion><name sortKey="Kayserili, H" sort="Kayserili, H" uniqKey="Kayserili H" first="H." last="Kayserili">H. Kayserili</name>
</noRegion>
</country>
<country name="Malaisie"><noRegion><name sortKey="Keng, W T" sort="Keng, W T" uniqKey="Keng W" first="W. T." last="Keng">W. T. Keng</name>
</noRegion>
</country>
<country name="Israël"><noRegion><name sortKey="Lev, D" sort="Lev, D" uniqKey="Lev D" first="D." last="Lev">D. Lev</name>
</noRegion>
</country>
<country name="États-Unis"><region name="Ohio"><name sortKey="Prada, C E" sort="Prada, C E" uniqKey="Prada C" first="C. E." last="Prada">C. E. Prada</name>
</region>
<name sortKey="Shashi, V" sort="Shashi, V" uniqKey="Shashi V" first="V." last="Shashi">V. Shashi</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Sampson, J R" sort="Sampson, J R" uniqKey="Sampson J" first="J. R." last="Sampson">J. R. Sampson</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

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