Article
PCSK5 mutation in a patient with the VACTERL association.
BMC research notes - 9 Jun 2015
Nakamura Yukio, Kikugawa Shingo, Seki Shoji, Takahata Masahiko, Iwasaki Norimasa, Terai Hidetomi, Matsubara Mitsuhiro, Fujioka Fumio, Inagaki Hidehito, Kobayashi Tatsuya, Kimura Tomoatsu, Kurahashi Hiroki, Kato Hiroyuki
Abstract excerpt
BACKGROUND: The VACTERL association is a typically sporadic, non-random collection of congenital anomalies that includes vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, renal anomalies, and limb abnormalities. Although several chromosomal aberrations and gene mutations have been reported as disease-causative, these findings have been sparsely replicated to...
Topics
- Anal Canal
- Child
- DNA Mutational Analysis
- Esophagus
- Frameshift Mutation
- Genetic Predisposition to Disease
- Heart Defects, Congenital
- Heredity
- Humans
- Kidney