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Exclusion of the elastin gene in the pathogenesis of Costello syndrome

✍ Scribed by Tandoi, C. ;Botta, A. ;Fini, G. ;Sangiuolo, F. ;Novelli, G. ;Ricci, R. ;Zampino, G. ;Anichini, C. ;Dallapiccola, B.

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
39 KB
Volume
98
Category
Article
ISSN
0148-7299

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We present a lbyear-old girl with mental retardation, short stature, coarse face, unusually thick, loose skin of the hands and feet, deep plantar and palmar creases, and nasal papillomata. Her history and physical fmdings are compared to those of 2 children initially reported by Costello and to 1 ch