Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect
Identifieur interne : 004515 ( Istex/Curation ); précédent : 004514; suivant : 004516Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect
Auteurs : P. Brouillard [Belgique] ; M. Ghassibé [Belgique] ; A. Penington [Australie] ; L M Boon [Belgique] ; A. Dompmartin [France] ; I K Temple [Royaume-Uni] ; M. Cordisco [Argentine] ; D. Adams [États-Unis] ; F. Piette [France] ; J I Harper [Royaume-Uni] ; S. Syed [Royaume-Uni] ; F. Boralevi [France] ; A. Taïeb [France] ; S. Danda [Australie] ; E. Baselga [Espagne] ; O. Enjolras [France] ; J B Mulliken [États-Unis] ; M. Vikkula [Belgique]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2005-02.
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Abstract
Background: Glomuvenous malformation (GVM) (“familial glomangioma”) is a localised cutaneous vascular lesion histologically characterised by abnormal smooth muscle-like “glomus cells” in the walls of distended endothelium lined channels. Inheritable GVM has been linked to chromosome 1p21-22 and is caused by truncating mutations in glomulin. A double hit mutation was identified in one lesion. This finding suggests that GVM results from complete localised loss of function and explains the paradominant mode of inheritance. Objective: To report on the identification of a mutation in glomulin in 23 additional families with GVM. Results: Three mutations are new; the others have been described previously. Among the 17 different inherited mutations in glomulin known up to now in 43 families, the 157delAAGAA mutation is the most common and was present in 21 families (48.8%). Mutation 108C→A was found in five families (11.8%), and the mutations 554delA+556delCCT and 1179delCAA were present together in two families (4.7% each). Polymorphic markers suggested a founder effect for all four mutations. Conclusions: Screening for these mutations should lead to a genetic diagnosis in about 70% of patients with inherited GVM. So far, a mutation in glomulin has been found in all GVM families tested, thus demonstrating locus homogeneity.
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DOI: 10.1136/jmg.2004.024174
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Ghassibé</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Penington, A" sort="Penington, A" uniqKey="Penington A" first="A" last="Penington">A. 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Piette</name><affiliation wicri:level="1"><mods:affiliation>Clinique de Dermatologie, Centre Hospitalier Regional Universitaire, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Clinique de Dermatologie, Centre Hospitalier Regional Universitaire, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Harper, J I" sort="Harper, J I" uniqKey="Harper J" first="J I" last="Harper">J I Harper</name><affiliation wicri:level="1"><mods:affiliation>Great Ormond Street Hospital for Children NHS Trust, London, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Hospital for Children NHS Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Syed, S" sort="Syed, S" uniqKey="Syed S" first="S" last="Syed">S. Syed</name><affiliation wicri:level="1"><mods:affiliation>Great Ormond Street Hospital for Children NHS Trust, London, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Hospital for Children NHS Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Boralevi, F" sort="Boralevi, F" uniqKey="Boralevi F" first="F" last="Boralevi">F. Boralevi</name><affiliation wicri:level="1"><mods:affiliation>Unité de Dermatologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unité de Dermatologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Taieb, A" sort="Taieb, A" uniqKey="Taieb A" first="A" last="Taïeb">A. Taïeb</name><affiliation wicri:level="1"><mods:affiliation>Unité de Dermatologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unité de Dermatologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Danda, S" sort="Danda, S" uniqKey="Danda S" first="S" last="Danda">S. Danda</name><affiliation wicri:level="2"><mods:affiliation>South Australian Clinical Genetics Service, Women’s & Children’s Hospital, North Adelaide, South Australia</mods:affiliation><country>Australie</country><placeName><region type="state">Australie-Méridionale</region></placeName><wicri:cityArea>South Australian Clinical Genetics Service, Women’s & Children’s Hospital, North Adelaide</wicri:cityArea></affiliation></author><author><name sortKey="Baselga, E" sort="Baselga, E" uniqKey="Baselga E" first="E" last="Baselga">E. Baselga</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Enjolras, O" sort="Enjolras, O" uniqKey="Enjolras O" first="O" last="Enjolras">O. Enjolras</name><affiliation wicri:level="1"><mods:affiliation>Consultations des Angiomes, Hôpital Lariboisière, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Consultations des Angiomes, Hôpital Lariboisière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Mulliken, J B" sort="Mulliken, J B" uniqKey="Mulliken J" first="J B" last="Mulliken">J B Mulliken</name><affiliation wicri:level="1"><mods:affiliation>Division of Plastic Surgery, Vascular Anomalies Center, Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Plastic Surgery, Vascular Anomalies Center, Children’s Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M" last="Vikkula">M. Vikkula</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:9292F27733C34BC4D3987EC87E6DE853748F2B79</idno><date when="2005" year="2005">2005</date><idno type="doi">10.1136/jmg.2004.024174</idno><idno type="url">https://api.istex.fr/document/9292F27733C34BC4D3987EC87E6DE853748F2B79/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">004515</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">004515</idno><idno type="wicri:Area/Istex/Curation">004515</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Four common glomulin mutations cause two thirds of glomuvenous malformations (“familial glomangiomas”): evidence for a founder effect</title><author><name sortKey="Brouillard, P" sort="Brouillard, P" uniqKey="Brouillard P" first="P" last="Brouillard">P. Brouillard</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Ghassibe, M" sort="Ghassibe, M" uniqKey="Ghassibe M" first="M" last="Ghassibé">M. Ghassibé</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Penington, A" sort="Penington, A" uniqKey="Penington A" first="A" last="Penington">A. Penington</name><affiliation wicri:level="1"><mods:affiliation>University of Melbourne, Department of Surgery, St Vincent’s Hospital, Melbourne, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>University of Melbourne, Department of Surgery, St Vincent’s Hospital, Melbourne</wicri:regionArea></affiliation></author><author><name sortKey="Boon, L M" sort="Boon, L M" uniqKey="Boon L" first="L M" last="Boon">L M Boon</name><affiliation wicri:level="1"><mods:affiliation>Centre of Vascular Anomalies, Division of Plastic Surgery, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre of Vascular Anomalies, Division of Plastic Surgery, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Dompmartin, A" sort="Dompmartin, A" uniqKey="Dompmartin A" first="A" last="Dompmartin">A. Dompmartin</name><affiliation wicri:level="1"><mods:affiliation>Dermatologie, Centre Hospitalier Universitaire, Caen, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Dermatologie, Centre Hospitalier Universitaire, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Temple, I K" sort="Temple, I K" uniqKey="Temple I" first="I K" last="Temple">I K Temple</name><affiliation wicri:level="1"><mods:affiliation>Wessex Clinical Genetics Service and Division of Human Genetics, Southampton University and Hospital NHS Trust, Southampton, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wessex Clinical Genetics Service and Division of Human Genetics, Southampton University and Hospital NHS Trust, Southampton</wicri:regionArea></affiliation></author><author><name sortKey="Cordisco, M" sort="Cordisco, M" uniqKey="Cordisco M" first="M" last="Cordisco">M. Cordisco</name><affiliation wicri:level="1"><mods:affiliation>Hospital Nacional de Pediatria, Buenos Aires, Argentina</mods:affiliation><country xml:lang="fr">Argentine</country><wicri:regionArea>Hospital Nacional de Pediatria, Buenos Aires</wicri:regionArea></affiliation></author><author><name sortKey="Adams, D" sort="Adams, D" uniqKey="Adams D" first="D" last="Adams">D. Adams</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, Children’s Hospital Medical Center, University of Cincinnati, Ohio, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Children’s Hospital Medical Center, University of Cincinnati, Ohio</wicri:regionArea></affiliation></author><author><name sortKey="Piette, F" sort="Piette, F" uniqKey="Piette F" first="F" last="Piette">F. Piette</name><affiliation wicri:level="1"><mods:affiliation>Clinique de Dermatologie, Centre Hospitalier Regional Universitaire, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Clinique de Dermatologie, Centre Hospitalier Regional Universitaire, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Harper, J I" sort="Harper, J I" uniqKey="Harper J" first="J I" last="Harper">J I Harper</name><affiliation wicri:level="1"><mods:affiliation>Great Ormond Street Hospital for Children NHS Trust, London, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Hospital for Children NHS Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Syed, S" sort="Syed, S" uniqKey="Syed S" first="S" last="Syed">S. Syed</name><affiliation wicri:level="1"><mods:affiliation>Great Ormond Street Hospital for Children NHS Trust, London, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Hospital for Children NHS Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Boralevi, F" sort="Boralevi, F" uniqKey="Boralevi F" first="F" last="Boralevi">F. Boralevi</name><affiliation wicri:level="1"><mods:affiliation>Unité de Dermatologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unité de Dermatologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Taieb, A" sort="Taieb, A" uniqKey="Taieb A" first="A" last="Taïeb">A. Taïeb</name><affiliation wicri:level="1"><mods:affiliation>Unité de Dermatologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unité de Dermatologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Danda, S" sort="Danda, S" uniqKey="Danda S" first="S" last="Danda">S. Danda</name><affiliation wicri:level="2"><mods:affiliation>South Australian Clinical Genetics Service, Women’s & Children’s Hospital, North Adelaide, South Australia</mods:affiliation><country>Australie</country><placeName><region type="state">Australie-Méridionale</region></placeName><wicri:cityArea>South Australian Clinical Genetics Service, Women’s & Children’s Hospital, North Adelaide</wicri:cityArea></affiliation></author><author><name sortKey="Baselga, E" sort="Baselga, E" uniqKey="Baselga E" first="E" last="Baselga">E. Baselga</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Enjolras, O" sort="Enjolras, O" uniqKey="Enjolras O" first="O" last="Enjolras">O. Enjolras</name><affiliation wicri:level="1"><mods:affiliation>Consultations des Angiomes, Hôpital Lariboisière, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Consultations des Angiomes, Hôpital Lariboisière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Mulliken, J B" sort="Mulliken, J B" uniqKey="Mulliken J" first="J B" last="Mulliken">J B Mulliken</name><affiliation wicri:level="1"><mods:affiliation>Division of Plastic Surgery, Vascular Anomalies Center, Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Plastic Surgery, Vascular Anomalies Center, Children’s Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea></affiliation></author><author><name sortKey="Vikkula, M" sort="Vikkula, M" uniqKey="Vikkula M" first="M" last="Vikkula">M. Vikkula</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2005-02">2005-02</date><biblScope unit="volume">42</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="13">e13</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">9292F27733C34BC4D3987EC87E6DE853748F2B79</idno><idno type="DOI">10.1136/jmg.2004.024174</idno><idno type="href">jmedgenet-42-e13.pdf</idno><idno type="PMID">15689436</idno><idno type="local">042e013</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>GVM, glomuvenous malformation</term><term>founder effect</term><term>glomuvenous malformation</term><term>paradominant inheritance</term><term>vascular anomaly</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Glomuvenous malformation (GVM) (“familial glomangioma”) is a localised cutaneous vascular lesion histologically characterised by abnormal smooth muscle-like “glomus cells” in the walls of distended endothelium lined channels. Inheritable GVM has been linked to chromosome 1p21-22 and is caused by truncating mutations in glomulin. A double hit mutation was identified in one lesion. This finding suggests that GVM results from complete localised loss of function and explains the paradominant mode of inheritance. Objective: To report on the identification of a mutation in glomulin in 23 additional families with GVM. Results: Three mutations are new; the others have been described previously. Among the 17 different inherited mutations in glomulin known up to now in 43 families, the 157delAAGAA mutation is the most common and was present in 21 families (48.8%). Mutation 108C→A was found in five families (11.8%), and the mutations 554delA+556delCCT and 1179delCAA were present together in two families (4.7% each). Polymorphic markers suggested a founder effect for all four mutations. Conclusions: Screening for these mutations should lead to a genetic diagnosis in about 70% of patients with inherited GVM. So far, a mutation in glomulin has been found in all GVM families tested, thus demonstrating locus homogeneity.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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