Article
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
Human mutation - 1 May 2015
Vetro Annalisa, Iascone Maria, Limongelli Ivan, Ameziane Najim, Gana Simone, Della Mina Erika, Giussani Ursula, Ciccone Roberto, Forlino Antonella, Pezzoli Laura, Rooimans Martin A, van Essen Antoni J, Messa Jole, Rizzuti Tommaso, Bianchi Paolo, Dorsman Josephine, de Winter Johan P, Lalatta Faustina, Zuffardi Orsetta
Abstract excerpt
The diagnosis of VACTERL syndrome can be elusive, especially in the prenatal life, due to the presence of malformations that overlap those present in other genetic conditions, including the Fanconi anemia (FA). We report on three VACTERL cases within two families, where the two who arrived to be born died shortly after birth due to severe organs' malformations. The suspicion of VACTERL association was based on...
Topics
- Abortion, Induced
- Anal Canal
- Chromosome Breakage
- Diagnosis, Differential
- Esophagus
- Exome
- Fanconi Anemia
- Fanconi Anemia Complementation Group L Protein
- Female