Romanelli, Valeria

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. [electronic resource] - American journal of medical genetics. Part A Jun 2010 - 1390-7 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

1552-4833

10.1002/ajmg.a.33453 doi


Adult
Beckwith-Wiedemann Syndrome--genetics
Child
Child, Preschool
Cyclin-Dependent Kinase Inhibitor p57--chemistry
Female
Genotype
Humans
Infant
Male
Mutation
Phenotype
Polymorphism, Genetic
Protein Conformation