De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations

American Journal of Medical Genetics, Part A

Volumn 155, Issue 2, 2011, Pages 442-444

  Aradhya, Swaroop ^a   Smaoui, Nizar ^a   Marble, Michael ^b   Lacassie, Yves ^b  

^a GENEDX   (United States)

^b LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CITRATE SYNTHASE; PHENOBARBITAL; PHYTANIC ACID;

ASTIGMATISM; ATTENTION DEFICIT DISORDER; AUTISM; BRACHYDACTYLY; CASE REPORT; CHILD; CHROMOSOME 11P; COMPARATIVE GENOMIC HYBRIDIZATION; CONVERGENT STRABISMUS; DEVELOPMENTAL DISORDER; DIARRHEA; EPICANTHUS; EYE DISEASE; FEMALE; FOLLOW UP; GENE; GENE DUPLICATION; HEAD CIRCUMFERENCE; HUMAN; HYPERMETROPIA; KARYOTYPE 46,XX; LETTER; MENTAL DEFICIENCY; MICROCEPHALY; MICROGNATHIA; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEWBORN; PAX6 GENE; PRIORITY JOURNAL; PTOSIS; RESPIRATORY ACIDOSIS; SCHOOL CHILD; SHORT STATURE; STOMACH TUBE; SYNDACTYLY; TONIC CLONIC SEIZURE;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 11; DEVELOPMENTAL DISABILITIES; EYE ABNORMALITIES; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MICROCEPHALY; MUSCLE HYPOTONIA; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; REPRESSOR PROTEINS; SEIZURES;

EID: 79251494467     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33814     Document Type: Letter

References (5)

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