Eléments de l'association
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List of bibliographic references
Number of relevant bibliographic references: 7.| Ident. | Authors (with country if any) | Title |
|---|---|---|
| 009255 | Alexandre Irrthum [États-Unis] ; Koenraad Devriendt [Belgique] ; David Chitayat [États-Unis] ; Gert Matthijs [Belgique] ; Conrad Glade [Pays-Bas] ; Peter M. Steijlen [Pays-Bas] ; Jean-Pierre Fryns [Belgique] ; Maurice A. M. Van Steensel [Pays-Bas] ; Miikka Vikkula [États-Unis] | Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia |
| 00C054 | Jean-Pierre Fryns [Belgique] ; Paul Ramaekers [Belgique] | LETTER TO THE EDITOR. MULTIPLE‐MARKER SCREEN POSITIVE RESULTS IN RUBENSTEIN–TAYBI SYNDROME |
| 00C540 | Jean-Pierre Fryns [Belgique] ; Eric Smeets [Belgique] ; H. Van Den Berghe [Belgique] | On the nosology of the “primary true microcephaly, chorioretinal dysplasia, lymphoedema” association |
| 00C560 | Jean-Pierre Fryns [Belgique] | Microcephaly/lymphedema and terminal deletion of the long arm of chromosome 13 |
| 00CF49 | Philippe Moerman [Belgique] ; Kamiel Vandenberghe [Belgique] ; Hugo Devlieger [Belgique] ; Chris Van Hole [Belgique] ; Jean-Pierre Fryns [Belgique] ; Joseph M. Lauweryns [Belgique] | Congenital pulmonary lymphangiectasis with chylothorax: A heterogeneous lymphatic vessel abnormality |
| 00DC01 | C. Moerman [Belgique] ; Jean-Pierre Fryns [Belgique] ; Ann Cornelis [Belgique] ; Guido Bergmans [Belgique] ; Kamiel Vandenberghe [Belgique] ; Joseph M. Lauweryns [Belgique] | Pathogenesis of the lethal multiple pterygium syndrome |
| 00E083 | Kristina Chrzanowska [Pologne] ; Jean-Pierre Fryns [Belgique] ; Herman Van Den Berghe [Belgique] | Cardio‐facio‐cutaneous (CFC) syndrome: Report of a new patient |
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