Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ruggero Coppola"'
Autor:
Emanuele Miraglia del Giudice, Carlo Capristo, Giuseppina Rosaria Umano, Marcella Sasso, Ruggero Coppola, Adalgisa Festa, Laura Perrone, Gianluca Tornese, Pierluigi Marzuillo, Caterina Luongo, Grazia Cirillo, Anna Grandone
Publikováno v:
Endocrine. 59:203-208
Purpose: Recently, mutations of makorin RING-finger protein 3 (MKRN3) have been described in familial central precocious puberty. Serum levels of this protein decline before the pubertal onset in healthy girls and boys. The aim of the study is to inv
Autor:
Ruggero Coppola, Federica Messa, Caterina Luongo, Anna Grandone, Emanuele Miraglia del Giudice, Domenico Cozzolino, Laura Perrone, Pierluigi Marzuillo, Adalgisa Festa
Publikováno v:
BMC Medical Genetics
Background Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fo