7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.
Département de Biochimie, Biochimie et Génétique Moléculaire, Toxicologie et Pharmacologie, CHU Grenoble, Grenoble, France; Université Joseph Fourier, Grenoble, France; Grenoble Institut des Neurosciences, Unité INSERM U836, Grenoble, France.
John
J
Rendu
Véronique
V
Satre
Hervé
H
Testard
Francoise
F
Devillard
Gaëlle
G
Vieville
Julien
J
Fauré
Florence
F
Amblard
Pierre-Simon
PS
Jouk
Charles
C
Coutton
D002897:Chromosomes, Human, Pair 7; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D058305:Sorting Nexins / Q000235:genetics*; D013771:Tetralogy of Fallot / Q000235:genetics*
D058305:Sorting Nexins