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6. Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. Dentici ML; Niceta M; Lepri FR; Mancini C; Priolo M; Bonnard AA; Cappelletti C; Leoni C; Ciolfi A; Pizzi S; Cordeddu V; Rossi C; Ferilli M; Mucciolo M; Colona VL; Fauth C; Bellini M; Biasucci G; Sinibaldi L; Briuglia S; Gazzin A; Carli D; Memo L; Trevisson E; Schiavariello C; Luca M; Novelli A; Michot C; Sweertvaegher A; Germanaud D; Scarano E; De Luca A; Zampino G; Zenker M; Mussa A; Dallapiccola B; Cavé H; Digilio MC; Tartaglia M Eur J Hum Genet; 2024 Aug; 32(8):954-963. PubMed ID: 38824261 [TBL] [Abstract][Full Text] [Related]
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19. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. Ueda K; Yaoita M; Niihori T; Aoki Y; Okamoto N Am J Med Genet A; 2017 Sep; 173(9):2346-2352. PubMed ID: 28650561 [TBL] [Abstract][Full Text] [Related]
20. Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1. Witkowski L; Dillon MW; Murphy E; S Lebo M; Mason-Suares H Mol Genet Genomic Med; 2020 Apr; 8(4):e1180. PubMed ID: 32107864 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]