HDR syndrome in a Colombian woman with a genital tract malformation: First case report in Latin America

Objectives Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome, also known as Barakat syndrome, is an autosomal dominant transmission hereditary disease with a wide range of penetrance and expressivity. Haploinsufficiency of the GATA3 two finger zinc transcription factor is b...

Full description

Autores:

Vallejo Urrego, Michael A.
Parra Morales, Alejandra M.
González, Adriana

Tipo de recurso:

Article of journal

Fecha de publicación:

2018

Institución:

Fundación Universitaria de Ciencias de la Salud - FUCS

Repositorio:

Repositorio Digital Institucional ReDi

Idioma:

eng
spa

OAI Identifier:

oai:repositorio.fucsalud.edu.co:001/1908

Acceso en línea:

https://repositorio.fucsalud.edu.co/handle/001/1908

Palabra clave:

Zinc fingers
Uterine cervical disease
Gata3 transcription factor
Hypoparathyroidism
Deafness
Factor de transcripción GATA3
Enfermedades del cuello del útero
Dedos de zinc
Hipoparatiroidismo
Sordera

Rights

openAccess

License

Atribución-NoComercial-SinDerivadas 4.0 Internacional (CC BY-NC-ND 4.0)