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Homozygous FIBP Nonsense Variant Responsible of Syndromic Overgrowth, with Overgrowth, Macrocephaly, Retinal Coloboma and Learning Disabilities.

C. Thauvin-Robinet, L. Duplomb-Jego, F. Limoge, D. Picot,A. Masurel, B. Terriat, C. Champilou, D. Minot,J. St-Onge,P. Kuentz,Y. Duffourd,J. Thevenon,J. -B. Riviere,L. Faivre

Clinical Genetics（2015）

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关键词
FGF1,FIBP,macrocephaly,overgrowth,retinal coloboma
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