Hakutulokset - Morgane Stichelbout
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Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1 Tekijä Jamal Ghoumid, Morgane Stichelbout, Anne‐Sophie Jourdain, Frédéric Frénois, S. Lejeune-Dumoulin, Marie‐Pierre Alex‐Cordier, Marine Lebrun, P. Guerreschi, V. Duquennoy-Martinot, Matthieu Vinchon, Joël Ferri, Matthieu Jung, Serge Vicaire, Clémence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier‐Hanu
Julkaistu 2017Artigo
Työkalut:
Liittyvät aiheet
Biology
Genetics
ADAMTS13
CDH1
Cadherin
Cell
Disease
Ectodermal dysplasia
Endothelium
Exome sequencing
Gene
HELLP syndrome
Haploinsufficiency
Immunology
Internal medicine
Medicine
Missense mutation
Mutation
Phenotype
Platelet
Preeclampsia
Pregnancy
Sanger sequencing
Thrombosis
Thrombotic microangiopathy
Thrombotic thrombocytopenic purpura