#perlman_syndrome
Perlman syndrome
Overgrowth syndrome caused by DIS3L2 gene mutation
Perlman syndrome (PS), also known as nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome, is a rare overgrowth syndrome caused by autosomal recessive mutations in the DIS3L2 gene. PS is characterized by macrocephaly, neonatal macrosomia, nephromegaly, renal dysplasia, dysmorphic facial features, and increased risk for Wilms' tumor. The syndrome is associated with high neonatal mortality.
Fri 23rd
Provided by Wikipedia
This keyword could refer to multiple things. Here are some suggestions:
0 searches
This keyword has never been searched before
This keyword has never been searched for with any other keyword.