Novel FANCI mutations in Fanconi anemia with VACTERL association.
Savage, Sharon A; Ballew, Bari J; Giri, Neelam; Chandrasekharappa, Settara C; Ameziane, Najim; de Winter, Johan; Alter, Blanche P.
Am J Med Genet A
; 170A(2): 386-391, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26590883
Sonic Hedgehog, VACTERL, and Fanconi anemia: Pathogenetic connections and therapeutic implications.
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?
Clinical geneticists' views of VACTERL/VATER association.
The VACTERL Association as a disturbance of cell fate determination.
A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH).
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Blastogenetic associations: General considerations.
Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.