Perlman syndrome research progress / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1021-1024, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-921990
ABSTRACT
Perlman syndrome is a rare autosomal recessive congenital overgrowth syndrome caused by pathogenic variants of the DIS3L2 gene at 2q37 region. Clinically this syndrome is characterized by polyhydramnios, macrosomia, distinctive facial appearance, and renal dysplasia. Prognosis of the disease is poor, and survivors usually have mental delay and a high risk of developing Wilms tumor. At present, the pathogenesis of this disease is still poorly understood. This article intends to provide a review for this disease.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Síndrome
/
Macrosomía Fetal
/
Tumor de Wilms
/
Túbulos Renales Proximales
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS