A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder
Silvia Morlino, Marco Ritelli(University of Brescia), Marina Venturini(University of Brescia), Marina Colombi(University of Brescia), Valeria Cinquina(University of Brescia), Chiara Dordoni(Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia), Paola Grammatico, Graziano Santoro(University of Brescia), Marco Castori(Casa Sollievo della Sofferenza)
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