| Autor: |
Hammouche, E., Cottereau, E., Vuillaume, M.‐L., Moizard, M.‐P., Toutain, A., Delrue, M.‐A., Maftei, C., Perrin, L., Baumann, C., Dupont, C., Drunat, S. |
| Předmět: |
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| Zdroj: |
Clinical Genetics; May2018, Vol. 93 Issue 5, p1111-1113, 4p, 1 Graph |
| Abstrakt: |
The article presents a case study of two patients with Simpson-Golabi-Behmel syndrome (SGBS) caused by the loss of-function of the glypican-3 gene (GPC3) and which showed Xq26.2 duplication. It informs about the tandem duplication of GPC3 identified by array comparative genomic hybridization (array-CGH). It also recommends a molecular transcription analysis to assess a possible gene disruption. |
| Databáze: |
Complementary Index |
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