Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20% of all
congenital malformations occurring in one in 500 live births. Worldwide, CAKUT are …

A wide spectrum of genetic causes may lead to nonimmune hydrops fetalis (NIHF), and a
thorough phenotypic and genetic evaluation are essential to determine the underlying …

Objective To identify genes related to normal-pressure hydrocephalus (NPH) in one
Japanese family with several members with NPH. Methods We performed whole-exome …

Circular RNA (circRNA) plays an essential role in the development and progression of
various cancers. However, the functions and mechanisms of circRNA in colorectal liver …

Ex-utero intrapartum treatment (EXIT) is a delivery strategy developed to manage a variety of
prenatally diagnosed conditions in the transition to newborn life. This procedure allows …

Fraser syndrome (cryptophthalmos–syndactyly syndrome) is a rare autosomal recessive
malformation disorder. The first description of the syndrome was reported by George Fraser …

Background Fraser syndrome is a rare genetic disorder that often presents with ocular,
renal, genital and limb's congenital anomalies. The prognosis of this genetic disorder …

Cryptophthalmos is a rare congenital disorder characterized by ocular dysplasia with eyelid
malformation. Complete cryptophthalmos is characterized by the presence of continuous …

Background Complete cryptophthalmos, congenital aphakia, and corneal vascularization
are relatively uncommon congenital eye malformations during the fetal period. Herein, we …

Congenital anomalies of the kidney and urinary tract (CAKUT) accounts for up to 30% of
antenatal congenital anomalies and is the main cause of kidney failure in children …