Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1.
Knoblauch
H
H
Thiel
G
G
Tinschert
S
S
Körner
H
H
Tennstedt
C
C
Chaoui
R
R
Kohlhase
J
J
Dixkens
C
C
Blanck
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities; D002885:Chromosomes, Human, Pair 16; D020732:Cytogenetic Analysis; D004423:Ear / Q000002:abnormalities; D005260:Female; D017353:Gene Deletion; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D008297:Male; D011884:Radius / Q000002:abnormalities; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
C104146:SALL1 protein, human; D014157:Transcription Factors