000 02033 a2200601 4500
005 20250515224432.0
264 0 _c20100830
008 201008s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.33453
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aRomanelli, Valeria
245 0 0 _aCDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cJun 2010
300 _a1390-7 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
650 0 4 _aAdult
650 0 4 _aBeckwith-Wiedemann Syndrome
_xgenetics
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aCyclin-Dependent Kinase Inhibitor p57
_xchemistry
650 0 4 _aFemale
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aPhenotype
650 0 4 _aPolymorphism, Genetic
650 0 4 _aProtein Conformation
700 1 _aBelinchón, Alberta
700 1 _aBenito-Sanz, Sara
700 1 _aMartínez-Glez, Victor
700 1 _aGracia-Bouthelier, Ricardo
700 1 _aHeath, Karen E
700 1 _aCampos-Barros, Angel
700 1 _aGarcía-Miñaur, Sixto
700 1 _aFernandez, Luís
700 1 _aMeneses, Heloisa
700 1 _aLópez-Siguero, Juan Pedro
700 1 _aGuillén-Navarro, Encarna
700 1 _aGómez-Puertas, Paulino
700 1 _aWesselink, Jan-Jaap
700 1 _aMercado, Graciela
700 1 _aEsteban-Marfil, Victoria
700 1 _aPalomo, Rebeca
700 1 _aMena, Rocío
700 1 _aSánchez, Aurora
700 1 _aDel Campo, Miguel
700 1 _aLapunzina, Pablo
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 152A
_gno. 6
_gp. 1390-7
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.33453
_zAvailable from publisher's website
999 _c19855871
_d19855871