| Autor: |
Tello, C., Darling, A., Lupo, V., Ortez, C.I., Pérez‐Dueñas, B., Espinós, C. |
| Předmět: |
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| Zdroj: |
Clinical Genetics; Jul2017, Vol. 92 Issue 1, p117-118, 3p, 1 Diagram |
| Abstrakt: |
The article presents a study by Ethical Committee of the Hospital Sant Joan de Déu on neurodegeneration with brain iron accumulation (NBIA) in childhood. Topics discussed include analysis of twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 conceived by in vitro fertilization; and importance of achieving a definitive molecular diagnosis in order to perform an accurate genetic counselling. |
| Databáze: |
Complementary Index |
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