Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?

American Journal of Medical Genetics, Part A

Volumn 170, Issue 1, 2016, Pages 130-134

  Cavalleri, Valeria ^a   Bettini, Laura R ^a   Barboni, Chiara ^a   Cereda, Anna ^b   Mariani, Milena ^a   Spinelli, Marco ^a   Gervasini, Cristina ^c   Russo, Silvia ^d   Biondi, Andrea ^a   Jankovic, Momcilo ^a   Selicorni, Angelo ^a  

^a SAN GERARDO HOSPITAL   (Italy)

^b PAPA GIOVANNI XXIII HOSPITAL   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d ISTITUTO AUXOLOGICO ITALIANO   (Italy)

Author keywords

CdLS; ITP; Thrombocytopenia

Indexed keywords

HISTONE DEACETYLASE 8; NIPBL PROTEIN, HUMAN; PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; DE LANGE SYNDROME; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENETIC PREDISPOSITION; HDAC8 GENE; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; INCIDENCE; ITALIAN (CITIZEN); MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NIPBL GENE; PRIORITY JOURNAL; RAD21 GENE; SMC1A GENE; SMC3 GENE; THROMBOCYTE COUNT; THROMBOCYTOPENIA; COHORT ANALYSIS; GENETICS; INFANT; ITALY; MIDDLE AGED; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; PROGNOSIS; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DE LANGE SYNDROME; FEMALE; HUMANS; INCIDENCE; INFANT; ITALY; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PROGNOSIS; PROTEINS; THROMBOCYTOPENIA; YOUNG ADULT;

EID: 84955460274     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37390     Document Type: Article

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