X‐linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability
Nicola Brunetti‐Pierri(Federico II University Hospital), Giancarlo Parenti(European School of Molecular Medicine), Rosaria Tuzzi(Federico II University Hospital), Generoso Andria(Federico II University Hospital), Giovanna Roberta Vega(Federico II University Hospital), Maria Vittoria Andreucci(Federico II University Hospital), Andrea Ballabio(Baylor College of Medicine), Germana Meroni(Telethon Institute Of Genetics And Medicine), George F. Gray(NewYork–Presbyterian Hospital), C. McKeown(Birmingham Children's Hospital)
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