De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.

Hilger, Alina

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. [electronic resource] - European journal of human genetics : EJHG Dec 2013 - 1377-82 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/ejhg.2013.58 doi


Abnormalities, Multiple--genetics
Anal Canal--abnormalities
Animals
Anus, Imperforate--genetics
DNA Copy Number Variations--genetics
Esophagus--abnormalities
Female
Heart Defects, Congenital--genetics
Humans
Karyotyping--methods
Kidney--abnormalities
Limb Deformities, Congenital--genetics
Male
Mice
Radius--abnormalities
Receptors, G-Protein-Coupled--genetics
Spine--abnormalities
Trachea--abnormalities