Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25

American Journal of Medical Genetics, Part A

Volumn 155, Issue 12, 2011, Pages 2925-2932

  Tonoki, Hidefumi ^a,b   Harada, Naoki ^c   Shimokawa, Osamu ^c   Yosozumi, Ayako ^b   Monzaki, Kadomi ^b   Satoh, Kohei ^d   Kosaki, Rika ^e   Sato, Atsushi ^f   Matsumoto, Naomichi ^g   Iizuka, Susumu ^a  

^a Tenshi Hospital   (Japan)

^b HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Kyushu Medical Science Nagasaki Laboratory   (Japan)

^d Sapporo Kousei Hospital   (Japan)

^e NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^f UNIVERSITY OF TOKYO   (Japan)

^g YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Axenfeld Rieger anomaly; DNA array; FISH; FOXC1; PITX2; Rieger syndrome

Indexed keywords

ARTICLE; AUTISM; AXENFELD RIEGER ANOMALY; CASE REPORT; CHILD; CHROMOSOME 6P; CHROMOSOME 6P25; CHROMOSOME BANDING PATTERN; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME INVERSION; CLINICAL FEATURE; CONGENITAL GLAUCOMA; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DNA MICROARRAY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOXC1 GENE; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; INFANT; JAPANESE; KARYOTYPE 46,XY; KARYOTYPING; MALE; MUSCLE WEAKNESS; PHENOTYPE; PITX2 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RIEGER SYNDROME;

ANTERIOR EYE SEGMENT; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 6; COMPARATIVE GENOMIC HYBRIDIZATION; EYE ABNORMALITIES; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE;

EID: 81955164202     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33858     Document Type: Article

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