Perlman syndrome research progress / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1021-1024, 2021.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Syndrome
/
Fetal Macrosomia
/
Wilms Tumor
/
Kidney Tubules, Proximal
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
Similar
MEDLINE
...
LILACS
LIS