NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.
Borck
G
G
INSERM U393 and Département de Génétique Médicale, Hôpital Necker - Enfants Malades, Paris, France.
Redon
R
R
Sanlaville
D
D
Rio
M
M
Prieur
M
M
Lyonnet
S
S
Vekemans
M
M
Carter
N P
NP
Munnich
A
A
Colleaux
L
L
Cormier-Daire
V
V
D000293:Adolescent; D000328:Adult; D018797:Cell Cycle Proteins; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D020732:Cytogenetic Analysis; D003635:De Lange Syndrome / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D018740:Genetic Heterogeneity; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009154:Mutation; D010290:Parents; D011506:Proteins / Q000235:genetics*
D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins