Nature5d
22q11.2 microdeletion syndrome is a common cause of renal tract malformations
Diagnosis of 22q11.2 microdeletion syndrome should be considered in patients with malformation of the kidney. Dysmorphia, abnormal voice, cardiac malformations or hypoparathyroidism are clues to ...
Nature5d
Genetics of Renal Hypoplasia: Insights Into the Mechanisms Controlling Nephron Endowment
Renal hypoplasia, defined as abnormally small kidneys with normal morphology and reduced nephron number, is a common cause of pediatric renal failure and adult-onset disease. Genetic studies ...
Frontiers3d
Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis
Background: Increased nuchal translucency (NT) is an important biomarker associated with increased risk of fetal structural anomalies. It is known to be contributed by a wide range of genetic ...
bjo.bmj5d
Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma
Further investigations included orbital ultrasound to measure ... Patient 25–1 had right kidney scarring with recurrent urinary tract infections, while 24–1, 34–1 and 35–2 all had developmental delay ...