A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17

American Journal of Medical Genetics, Part A

Volumn 143, Issue 1, 2007, Pages 76-81

  Havlovicova, Marketa ^a   Novotna, Drahuse ^a   Kocarek, Eduard ^a   Novotna, Kamila ^a   Bendova, Sarka ^a   Petrak, Borivoj ^a   Hrdlicka, Michal ^a   Sedlacek, Zdenek ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

Autism; Cancer susceptibility; Mental retardation; Neurofibromatosis; Ring chromosome 17; Ring syndrome

Indexed keywords

ARTICLE; AUTISM; CASE REPORT; CHROMOSOMAL INSTABILITY; CHROMOSOME 17; CHROMOSOME 17P; CHROMOSOME 17Q; CHROMOSOME MOSAICISM; CLINICAL FEATURE; CYTOGENETICS; DISEASE COURSE; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE AMPLIFICATION; GENE DELETION; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; MENTAL DEFICIENCY; MOLECULAR PROBE; MONOSOMY; NEUROFIBROMATOSIS; NEWBORN; NF1 GENE; ONCOGENE; PRIORITY JOURNAL; RING CHROMOSOME; SOMATIC CELL; SOMATIC CELL GENETICS; TP53 GENE;

AUTISTIC DISORDER; CHILD; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MOSAICISM; NEUROFIBROMATOSIS 1; RING CHROMOSOMES;

EID: 33845967138     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31569     Document Type: Article

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