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Expanding the clinical spectrum of the "HDAC8-phenotype" - Implications for molecular diagnostics, counselling and risk prediction

Ilaria Parenti , Cristina Gervasini , Jelena Pozojevic , Kerstin S. Wendt , Erwan Watrin et al.
Clinical Genetics, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩
Journal articles istex hal-01255865v1

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Viviana Cordeddu , Jiani C. Yin , Cecilia Gunnarsson , Carl Virtanen , Séverine Drunat et al.
Human Mutation, 2015, 36 (11), pp.1080--1087. ⟨10.1002/humu.22834⟩
Journal articles hal-01225504v1