P Buttitta

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene

Giancarlo Parenti, P Buttitta, Germana Meroni et al. · American Journal of Medical Genetics · 1997 · 32 citations

Developmental Anomaly, Arse Gene, Chondrodysplasia Punctata +13

Haemostatic Studies in Carbohydrate-deficient Glycoprotein Syndrome Type I

Agata Fiumara, Rita Barone, P Buttitta et al. · Thrombosis and Haemostasis · 1996 · 29 citations

Glycobiology, Immunology, Pathology +26

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

Agata Fiumara, Rita Barone, P Buttitta et al. · British Journal of Ophthalmology · 1994 · 27 citations · Full text

Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine ?1(I) 901 substitution in a type-I collagen gene

Monica Mottes, Antonella Sangalli, Maurizia Valli et al. · Human Genetics · 1992 · 26 citations

Bone Disease, Developmental Biology, Bone Morphogenic Protein +10

Holoprosencephaly: Examples of clinical variability and etiologic heterogeneity

Giovanni Corsello, P Buttitta, Marina Cammarata et al. · American Journal of Medical Genetics · 1990 · 26 citations