F. Bedeschi

Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by <i>TRPV4</i> mutations

Gen Nishimura, Jin Dai, Ekkehart Lausch et al. · American Journal of Medical Genetics Part A · 2010 · 80 citations · Full text

Novel and recurrent <i>TRPV4</i> mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

Jin Dai, O.-H. Kim, T.-J. Cho et al. · Journal of Medical Genetics · 2010 · 70 citations · Full text

Insights into genotype–phenotype correlations from <i><scp>CREBBP</scp></i> point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients

Silvia Spena, Donatella Milani, Daniele Rusconi et al. · Clinical Genetics · 2014 · 65 citations

Rubinstein-taybi Syndrome, Creb-binding Protein, Genetics +17

Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome

Pierangela Castorina, Angelo Selicorni, F. Bedeschi et al. · American Journal of Medical Genetics · 1997 · 17 citations

Genetics, Genetic Epidemiology, Minor Facial Anomalies +18