Abstract Background The acronym VATER/VACTERL association describes the combination
of at least three component features (CFs): vertebral defects (V), anorectal malformations …

The VATER/VACTERL association is typically defined by the presence of at least 3 of the
following congenital malformations: Vertebral anomalies, Anal atresia, Cardiac …

Copy number variations (CNVs), either DNA gains or losses, have been found at common
regions throughout the human genome. Most CNVs neither have a pathogenic significance …

Congenital heart diseases are a common prenatal finding. The prenatal identification of an
associated genetic syndrome or a major extracardiac anomaly helps to understand the …

Anorectal malformation (ARM) is a relatively frequently occurring congenital anomaly of
hindgut development with a prevalence of 1 in 3,000 live births. ARM may present as an …

In order to identify genetic causes of VACTERL association (V vertebral defects, A anorectal
malformations, C cardiac defects, T tracheoesofageal fistula, E esophageal atresia, R renal …

Background SHROOM4 is thought to play an important role in cytoskeletal modification and
development of the early nervous system. Previously, single-nucleotide variants (SNVs) or …

The combination of vertebral, anal, cardiac, tracheo‐esophageal, renal and limb anomalies
termed VACTERL association, also referred to as VATER, has been used as a clinical …

Туманова УН, Ляпин ВМ, Буров АА, Подуровская ЮЛ, Зарецкая НВ, Быченко ВГ,
Козлова АВ, Щеголев АИ роанализированы данные литературы и приведено …

The Mayer–Rokitansky–Küster–Hauser syndrome is characterized by aplasia of the uterus
and upper two-thirds of the vagina. While it can appear as an isolated genital malformation …