Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.
Hiel
J A
JA
Weemaes
C M
CM
van Engelen
B G
BG
Smeets
D
D
Ligtenberg
M
M
van Der Burgt
I
I
van Den Heuvel
L P
LP
Cerosaletti
K M
KM
Gabreëls
F J
FJ
Concannon
P
P
D002869:Chromosome Aberrations; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000378:metabolism; D003638:Deafness / Q000235:genetics* / Q000378:metabolism; D019066:Facies; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000378:metabolism; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D011836:Radiation Tolerance; D013577:Syndrome; D014965:X-Rays
D009687:Nuclear Proteins