Deficiency of the Cyclin-Dependent Kinase Inhibitor, CDKN1B, Results in Overgrowth and Neurodevelopmental Delay

Human Mutation

Volumn 34, Issue 6, 2013, Pages 864-868

  Grey, William ^a   Izatt, Louise ^b   Sahraoui, Wafa ^a   Ng, Yiu Ming ^a,c   Ogilvie, Caroline ^b   Hulse, Anthony ^d   Tse, Eric ^c   Holic, Roman ^e   Yu, Veronica ^a,b  

^a GUY S HOSPITAL   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

^d EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^e INSTITUTE OF CHEMISTRY   (Slovakia)

Author keywords

Cancer; CDKN1B; MEN syndrome, developmental delay

Indexed keywords

MESSENGER RNA; PROTEIN P27;

APOLD1 GENE; ARTICLE; AUTISM; CASE REPORT; CHILD; CHROMOSOME 12P; CHROMOSOME DELETION; CYCLIN DEPENDENT KINASE INHIBITOR 1B DEFICIENCY; CYCLIN DEPENDENT KINASE INHIBITOR 1B GENE; DDX47 GENE; DEVELOPMENTAL DISORDER; DNA EXTRACTION; GENE; GENE EXPRESSION; GENE LOCUS; GENETIC VARIABILITY; GROWTH DISORDER; HEAD CIRCUMFERENCE; HUMAN; MALE; MULTIPLE ENDOCRINE NEOPLASIA; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM;

AUTISTIC DISORDER; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; CYCLIN-DEPENDENT KINASE INHIBITOR P27; DEVELOPMENTAL DISABILITIES; FEMALE; GENE EXPRESSION; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84878148924     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22314     Document Type: Article

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