Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome

European Journal of Medical Genetics

Volumn 52, Issue 2-3, 2009, Pages 145-147

  de Ravel, Thomy J L ^a   Ameye, Liliane ^b   Ballon, Katleen ^a   Borghgraef, Martine ^a   Vermeesch, Joris R ^a   Devriendt, Koen ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b Algemeen Ziekenhuis Diest   (Belgium)

Author keywords

9q22.3; Array CGH; Chromosome 9; Deletion; Mental retardation; Nevoid basal cell carcinoma; PTCH1

Indexed keywords

ADULT; ARTICLE; BASAL CELL NEVUS SYNDROME; CASE REPORT; CHROMOSOME 9Q; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIAL SUTURE; DEVELOPMENTAL DISORDER; EPICANTHUS; FACE DYSMORPHIA; FOOD REGURGITATION; FUNNEL CHEST; GENE; HUMAN; HUMAN HOMOLOGUE OF THE DROSOPHILA PATCHED 1 GENE; KYPHOSCOLIOSIS; LIP MALFORMATION; LOWER RESPIRATORY TRACT INFECTION; MACROCEPHALY; MALE; MICROGNATHIA; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; NIPPLE MALFORMATION; PALATE MALFORMATION; PSYCHOMOTOR RETARDATION; SPEECH DISORDER; THIN UPPER LIP; TOOTH MALFORMATION; UPPER RESPIRATORY TRACT INFECTION; WEBBED NECK;

ABNORMALITIES, MULTIPLE; CARCINOMA, BASAL CELL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 9; HUMANS; INFANT; MALE; MENTAL RETARDATION; MOTOR SKILLS DISORDERS; RECEPTORS, CELL SURFACE; SPEECH DISORDERS; SYNDROME;

EID: 67349109792     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.02.002     Document Type: Article

References (6)

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