{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T10:47:34Z","timestamp":1789728454561,"version":"4.0.1"},"reference-count":43,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"11","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation"],"published-print":{"date-parts":[[2017,9,12]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia and capillary malformation (CM)-AVM. Previously, we identified\n                      <jats:italic>RASA1<\/jats:italic>\n                      mutations in 50% of patients with CM-AVM. Herein we studied non-RASA1 patients to further elucidate the pathogenicity of CMs and AVMs.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We conducted a genome-wide linkage study on a CM-AVM family. Whole-exome sequencing was also performed on 9 unrelated CM-AVM families. We identified a candidate gene and screened it in a large series of patients. The influence of several missense variants on protein function was also studied in vitro.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      We found evidence for linkage in 2 loci. Whole-exome sequencing data unraveled 4 distinct damaging variants in\n                      <jats:italic>EPHB4<\/jats:italic>\n                      in 5 families that cosegregated with CM-AVM. Overall, screening of\n                      <jats:italic>EPHB4<\/jats:italic>\n                      detected 47 distinct mutations in 54 index patients: 27 led to a premature stop codon or splice-site alteration, suggesting loss of function. The other 20 are nonsynonymous variants that result in amino acid substitutions. In vitro expression of several mutations confirmed loss of function of EPHB4. The clinical features included multifocal CMs, telangiectasias, and AVMs.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      We found\n                      <jats:italic>EPHB4<\/jats:italic>\n                      mutations in patients with multifocal CMs associated with AVMs. The phenotype, CM-AVM2, mimics\n                      <jats:italic>RASA1<\/jats:italic>\n                      -related CM-AVM1 and also hereditary hemorrhagic telangiectasia.\n                      <jats:italic>RASA1<\/jats:italic>\n                      -encoded p120RASGAP is a direct effector of EPHB4. Our data highlight the pathogenetic importance of this interaction and indicts EPHB4-RAS-ERK signaling pathway as a major cause for AVMs.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/circulationaha.116.026886","type":"journal-article","created":{"date-parts":[[2017,7,7]],"date-time":"2017-07-07T20:55:24Z","timestamp":1499460924000},"page":"1037-1048","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":278,"title":["Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling"],"prefix":"10.1161","volume":"136","author":[{"given":"Mustapha","family":"Amyere","sequence":"first","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Revencu","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rapha\u00ebl","family":"Helaers","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonore","family":"Pairet","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eulalia","family":"Baselga","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Cordisco","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Chung","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9e","family":"Dubois","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Philippe","family":"Lacour","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loreto","family":"Martorell","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Mazereeuw-Hautier","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reed E.","family":"Pyeritz","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Amor","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annouk","family":"Bisdorff","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francine","family":"Blei","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Bombei","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Dompmartin","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Brooks","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Dupont","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Antonia","family":"Gonz\u00e1lez-Ense\u00f1at","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilona","family":"Frieden","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"G\u00e9rard","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malin","family":"Kvarnung","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea Kwan","family":"Hanson-Kahn","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louanne","family":"Hudgins","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"L\u00e9aut\u00e9-Labr\u00e8ze","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"McCuaig","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Metry","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Parent","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carle","family":"Paul","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Petit","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Phan","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Universit\u00e9 catholique de Louvain, Brussels, Belgium (N.R.); Universit\u00e9 catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Quere","sequence":"additional","affiliation":[{"name":"From Human Molecular Genetics, de Duve Institute, Universit\u00e9 catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); 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