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Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

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第一作者: Pascal,Brouillard
第一单位: Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74 (+5), bte B1.74.06, 1200, Brussels, Belgium.
作者单位: Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74 (+5), bte B1.74.06, 1200, Brussels, Belgium. [1] Otolaryngology Department, Cliniques Universitaires Saint-Luc, University of Louvain, Brussels, Belgium.;Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, University of Louvain, Brussels, Belgium.;VASCERN VASCA European Reference Centre, Brussels, Belgium. [2] Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen, France. [3] Department of Otolaryngology, Kokkola Central Hospital, Kokkola, Finland. [4] Department of Otorhinolaryngology, Head and Neck Surgery, Tampere University Hospital, Tampere, Finland. [5] Service de Chirurgie Plastique Reconstructive, Hôpital Salengro, CHU de Lille, Lille, France. [6] Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium. [7] Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74 (+5), bte B1.74.06, 1200, Brussels, Belgium.;Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, University of Louvain, Brussels, Belgium.;VASCERN VASCA European Reference Centre, Brussels, Belgium. [8] Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74 (+5), bte B1.74.06, 1200, Brussels, Belgium. miikka.vikkula@uclouvain.be.;Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, University of Louvain, Brussels, Belgium. miikka.vikkula@uclouvain.be.;VASCERN VASCA European Reference Centre, Brussels, Belgium. miikka.vikkula@uclouvain.be.;Walloon Excellence in Lifesciences and Biotechnology (WELBIO), University of Louvain, Brussels, Belgium. miikka.vikkula@uclouvain.be. [9]
DOI 10.1186/s13023-021-01898-y
PMID 34112235
发布时间 2021-06-29
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Orphanet journal of rare diseases

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