TY  - GEN
AU  - Romanelli,Valeria
AU  - Belinchón,Alberta
AU  - Benito-Sanz,Sara
AU  - Martínez-Glez,Victor
AU  - Gracia-Bouthelier,Ricardo
AU  - Heath,Karen E
AU  - Campos-Barros,Angel
AU  - García-Miñaur,Sixto
AU  - Fernandez,Luís
AU  - Meneses,Heloisa
AU  - López-Siguero,Juan Pedro
AU  - Guillén-Navarro,Encarna
AU  - Gómez-Puertas,Paulino
AU  - Wesselink,Jan-Jaap
AU  - Mercado,Graciela
AU  - Esteban-Marfil,Victoria
AU  - Palomo,Rebeca
AU  - Mena,Rocío
AU  - Sánchez,Aurora
AU  - Del Campo,Miguel
AU  - Lapunzina,Pablo
TI  - CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms
SN  - 1552-4833
PY  - 2010///0830
KW  - Adult
KW  - Beckwith-Wiedemann Syndrome
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Cyclin-Dependent Kinase Inhibitor p57
KW  - chemistry
KW  - Female
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Polymorphism, Genetic
KW  - Protein Conformation
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1002/ajmg.a.33453
ER  -