CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.
Keren
Boris
B
Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debré University Hospital, 48 boulevard Serurier, 75019 Paris, France.
Suzuki
Oscar T
OT
Gérard-Blanluet
Marion
M
Brémond-Gignac
Dominique
D
Elmaleh
Monique
M
Titomanlio
Luigi
L
Delezoide
Anne-Lise
AL
Passos-Bueno
Maria Rita
MR
Verloes
Alain
A
D001921:Brain / Q000002:abnormalities*; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D043170:Collagen Type XVIII / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005333:Fetus / Q000002:abnormalities* / Q000294:innervation; D006222:Hamartoma / Q000235:genetics / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D009216:Myopia / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D013577:Syndrome
D043170:Collagen Type XVIII; D022821:RNA Splice Sites