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Identification of a new candidate locus for ebstein anomaly in 1p36.2

Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and share loss of the PRDM16 gene, which is currently considered the most likely can...

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Detalles Bibliográficos
Autores Principales: Miranda-Fernández, Marta-Catalina, Ramírez-Oyaga, Silvia, Huertas-Quiñones, Victor-Manuel, Barrera-Castañeda, Magally, Quero, Rossi, Hernández-Toro, Camilo-José, Tamar Silva, Claudia, Laissue, Paul, Cabrera, Rodrigo, Restrepo, Carlos M.
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: S. Karger AG 2018
Materias:
Zinc finger E box binding homeobox 2
Article
Bacterial pneumonia
Bicuspid aortic valve
Birth weight
Case report
Child
Chromosome deletion 22q11
Clinical article
Cranial suture
Cryptorchism
Cyanosis
Dysphagia
Ebstein anomaly
Echocardiography
Echography
Enteric feeding
Eye disease
Failure to thrive
Funnel chest
Gastroenteritis
Gastroesophageal reflux
Gene
Gene deletion
Gene identification
Gene locus
Gene loss
Haploinsufficiency
Head circumference
Hearing impairment
Heart ventricle septum defect
Height
Hospital patient
Human
Hydramnios
Hypothyroidism
Intellectual impairment
Intelligence quotient
Keratoconus
Leukorrhea
Male
Microarray analysis
Muscle hypotonia
Nuclear magnetic resonance imaging
Phenotype
Photophobia
Physical examination
PRDM16 gene
Preschool child
Priority journal
Pulmonary valve stenosis
Seizure
SKI gene
Subarachnoid space
Supraventricular tachycardia
Tricuspid valve regurgitation
Wilson disease
Acceso en línea:https://repository.urosario.edu.co/handle/10336/22625
https://doi.org/10.1159/000488820

Internet

https://repository.urosario.edu.co/handle/10336/22625
https://doi.org/10.1159/000488820

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