Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome

American Journal of Medical Genetics

Volumn 132 A, Issue 4, 2005, Pages 381-385

  Maclean, Kenneth ^a,e   Smith, James ^a   St Heaps, Luke ^a   Chia, Nicole ^a   Williams, Rebecca ^a   Peters, Gregory B ^a   Onikul, Ella ^a   McCrossin, Tim ^b   Lehmann, Ordan J ^c   Adès, Lesley C ^a,d  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b Western NSW Local Health District   (Australia)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF SYDNEY   (Australia)

^e VICTOR CHANG CARDIAC RESEARCH INSTITUTE   (Australia)

Author keywords

6p25 deletion; Axenfeld Rieger syndrome; Cerebellar hypoplasia; FOXC1; Pulmonary stenosis

Indexed keywords

FORKHEAD TRANSCRIPTION FACTOR FOXC1; UNCLASSIFIED DRUG;

ARTICLE; AXENFELD RIEGER MALFORMATION; BONE MALFORMATION; BRACHYCEPHALY; BRAIN STEM; CASE REPORT; CEREBELLUM DISEASE; CHROMOSOME 6P; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CORPUS CALLOSUM; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FACE DYSMORPHIA; GENE CLUSTER; HEARING ACUITY; HEART MURMUR; HUMAN; HYDROCEPHALUS; HYPOPLASIA; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RIEGER SYNDROME; SLEEP APNEA SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; EYE ABNORMALITIES; FACE; HUMANS; INFANT; KARYOTYPING; MALE; SYNDROME; TOOTH ABNORMALITIES;

EID: 19944431348     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30274     Document Type: Article

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