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Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. [electronic resource] by
- Thauvin-Robinet, C
- Duplomb-Jego, L
- Limoge, F
- Picot, D
- Masurel, A
- Terriat, B
- Champilou, C
- Minot, D
- St-Onge, J
- Kuentz, P
- Duffourd, Y
- Thevenon, J
- Rivière, J-B
- Faivre, L
Producer: 20170503
In:
Clinical genetics vol. 89
Availability: No items available.
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