Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review
Marco Ritelli(University of Brescia), Marina Colombi(University of Brescia), Elena Reffo(University of Padua), Nicola Chiarelli(University of Brescia), Stefano Quinzani(University of Brescia), Marina Venturini(University of Brescia), Giuseppe Santoro(Ospedale D. Cotugno), Piergiacomo Calzavara‐Pinton(University of Brescia), Matteo Della Monica(Azienda Ospedaliera G.Rummo), Ornella Milanesi(University of Padua), Chiara Dordoni(Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia), Gioacchino Scarano(Azienda Ospedaliera G.Rummo), Maria Giovanna Russo(University of Naples Federico II)
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