FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q13) translocation detect a microdeletion involving the WAGR region
Document title: FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q13) translocation detect a microdeletion involving the WAGR region
Journal: Genetics and molecular biology
Database: PERIÓDICA
System number: 000170560
ISSN: 1415-4757
Authors: 1
Institutions: 1Fundacao Instituto Oswaldo Cruz, Centro de Genetica Medica, Rio de Janeiro. Brasil
2Universidade Federal do Rio de Janeiro, Unidade de Citogenetica Humana, Rio de Janeiro. Brasil
Year:
Season: Sep
Volumen: 23
Number: 3
Pages: 535-539
Country: Brasil
Language: Inglés
Document type: Artículo
Approach: Aplicado, caso clínico
Disciplines: Medicina
Keyword: Diagnóstico,
Oftalmología,
Genética,
Anomalías congénitas,
Aniridia,
Análisis citogenético,
Translocación cromosómica,
Microdeleciones
Keyword: Medicine,
Diagnosis,
Ophthalmology,
Congenital anomalies,
Aniridia,
Cytogenetic analysis,
Chromosome translocation,
Microdeletions,
Genetics
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