Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous

American Journal of Medical Genetics

Volumn 140 A, Issue 5, 2006, Pages 503-508

  Suzuki, Katsuhiro ^a   Nakamura, Makoto ^a   Amano, Emi ^a   Mokuno, Kumiko ^b   Shirai, Shoichiro ^c   Terasaki, Hiroko ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Kariya General Hospital   (Japan)

^c TOYOHASHI MUNICIPAL HOSPITAL   (Japan)

Author keywords

Axenfeld Rieger syndrome; Chromosome 6p25 terminal deletion; Persistent hyperplastic primary vitreous

Indexed keywords

ANTERIOR EYE SEGMENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 6P; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; FACE DYSMORPHIA; FEMALE; FOXC1 GENE; GENE; HUMAN; INFANT; KARYOTYPE 46,XX; PERSISTENT HYPERPLASTIC PRIMARY VITREOUS; PRIORITY JOURNAL; RIEGER SYNDROME; SPECTRAL KARYOTYPING;

ABNORMALITIES, MULTIPLE; ANTERIOR EYE SEGMENT; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; HYPERPLASIA; INFANT; INFANT, NEWBORN; SPECTRAL KARYOTYPING; VITREOUS BODY;

EID: 33644849100     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31085     Document Type: Article

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