Mutations in FOXL2Underlying BPES (Types 1 and 2) in Colombian Families

ABSTRACT: We report the genetic characterization ofone family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type 1and two families with BPES type 2 from a historically isolated population in north-west Colombia. Linkage and haplotype ana-lyses indicate that BPES in these families...

Full description

Autores:

Ramírez Castro, José Luis
Pineda Trujillo, Nicolás Guillermo
Valencia Duarte, Ana Victoria
Muñetón Peña, Carlos Mario
Botero Galeano, Olga
Trujillo, Olga
Vásquez Palacio, Gonzalo de Jesús
Mora Henao, Beatríz Eugenia
Durango Calle, Nora Elena
Bedoya Berrío, Gabriel de Jesús
Ruíz Linares, Andrés

Tipo de recurso:

Article of investigation

Fecha de publicación:

2002

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/26756

Acceso en línea:

http://hdl.handle.net/10495/26756

Palabra clave:

Blepharophimosis
Blefarofimosis
Cromosomas Humanos Par 3
Chromosomes, Human, Pair 3
Colombia / etnología
Colombia - ethnology
Proteínas de Unión al ADN - genética
DNA-Binding Proteins - genetics
Párpados - anomalías
Eyelids - abnormalities
Proteína Forkhead Box L2
Forkhead Box Protein L2
Factores de Transcripción Forkhead
Forkhead Transcription Factors
Marcadores Genéticos
Genetic Markers
Haplotipos
Haplotypes

Rights

openAccess

License

http://creativecommons.org/licenses/by-nc-nd/2.5/co/