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Cecilia M. Goueli, LGC


  • Genetic Counselor III, Division of Human Genetics

Publications

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay. Laboy Cintron, D; Muir, AM; Scott, A; McDonald, M; Monaghan, KG; Santiago-Sim, T; Wentzensen, IM; De Luca, C; Italian Undiagnosed Diseases Network, ; Brancati, F; Stottmann, R; Prada, CE; Biderman Waberski, M; Mefford, HC. Human Genetics and Genomics Advances. 2022; 3:100072.

Patient Ratings and Comments

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4.6
Overall Patient Rating