Eléments de l'association
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List of bibliographic references
Number of relevant bibliographic references: 4.| Ident. | Authors (with country if any) | Title |
|---|---|---|
| 009D23 | Thomas Reinehr [Allemagne] ; Anna Jauch [Allemagne] ; Barbara Zoll [Allemagne] ; Ute Engel [Allemagne] ; Iris Bartels [Allemagne] ; Werner Andler [Allemagne] | Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1‐3;q26) |
| 00AC63 | Arabella Smith [Australie] ; Anna Jauch [Allemagne] ; Howard Slater [Australie] ; Lisa Robson [Australie] ; Tyls Sandanam [Australie] | Syndromal obesity due to paternal duplication 6(q24.3‐q27) |
| 00AE54 | David Mowat [Australie] ; Anna Jauch [Allemagne] ; Lisa Robson [Australie] ; Arabella Smith [Australie] | Duplication within chromosome 5q characterized by fluorescence in situ hybridization |
| 012F87 | Konrad Oexle [Allemagne] ; Maja Hempel ; Anna Jauch ; Thomas Meitinger ; Núria Rivera-Brugués ; Sabine Stengel-Rutkowski ; Tim Strom | 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome. |
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