17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor

American Journal of Medical Genetics, Part A

Volumn 152, Issue 5, 2010, Pages 1278-1282

  Schluth Bolard, Caroline ^a,b   Sanlaville, Damien ^a,b   Labalme, Audrey ^a   Till, Marianne ^a   Morin, Isabelle ^a   Touraine, Renaud ^c   Edery, Patrick ^a,b  

^a HOSPICES CIVILS DE LYON   (France)

^b UNIVERSITÉ LYON 1   (France)

^c HÔPITAL NORD   (France)

Author keywords

17p13.1 microdeletion; Array CGH; Cancer predisposition; Mental retardation; TP53

Indexed keywords

PROTEIN P53;

ARTICLE; CANCER RISK; CANCER SUSCEPTIBILITY; CASE REPORT; CHILD; CHROMOSOME 17P; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; EFNB3 GENE; FACE DYSMORPHIA; FLATFOOT; FXR2 GENE; GENE; GENETIC COUNSELING; HEARING LOSS; HUMAN; HYPERMETROPIA; JOINT LAXITY; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION; NEOPLASMS; PHENOTYPE; PREGNANCY; TUMOR SUPPRESSOR PROTEIN P53;

EID: 77951712247     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33316     Document Type: Article

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