Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: A provisionally unique genetic syndrome?

American Journal of Medical Genetics

Volumn 111, Issue 2, 2002, Pages 182-186

  Grosso, S ^a   Farnetani, M A ^a   Berardi, R ^a   Vivarelli, R ^a   Vanni, M ^b   Morgese, G ^a   Balestri, P ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b Department of Ophthalmologic and Neurosurgery Sciences ^*  (Italy)

Author keywords

Axenfeld Rieger anomaly; Axenfeld Rieger syndrome; Glaucoma; Heart valves defects; Sensorineural hearing loss

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 13Q; CHROMOSOME 4Q; CHROMOSOME 6P; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CRANIOFACIAL MALFORMATION; EXTRAOCULAR MUSCLE; FAMILIAL DISEASE; FEMALE; GENETIC DISORDER; GENETIC HETEROGENEITY; GLAUCOMA; HUMAN; HYPOACUSIS; HYPOPLASIA; IRIS DISEASE; MALE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; RIEGER SYNDROME; SYMPTOM; TOOTH MALFORMATION; UMBILICUS; ANTERIOR EYE SEGMENT; CHROMOSOME 4; CHROMOSOME 6; CONGENITAL MALFORMATION; EYE MALFORMATION; FACIAL BONE; GENETICS; HEART SEPTUM DEFECT; MIDDLE AGED; PATHOLOGY; PEDIGREE; SYNDROME;

ADOLESCENT; ADULT; AGED; ANTERIOR EYE SEGMENT; CASE REPORT; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 6; CRANIOFACIAL ABNORMALITIES; EYE ABNORMALITIES; FACIAL BONES; FEMALE; GLAUCOMA; HEARING LOSS, SENSORINEURAL; HEART SEPTAL DEFECTS, ATRIAL; HUMAN; MALE; MIDDLE AGE; PEDIGREE; PHENOTYPE; SYNDROME; TOOTH ABNORMALITIES; HUMANS; MIDDLE AGED;

ARA;

EID: 0037158479     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10493     Document Type: Article

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