Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.
Petek
E
E
Jenne
D E
DE
Smolle
J
J
Binder
B
B
Lasinger
W
W
Windpassinger
C
C
Wagner
K
K
Kroisel
P M
PM
Kehrer-Sawatzki
H
H
D000328:Adult; D000818:Animals; D002460:Cell Line; D002648:Child; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008938:Mitosis / Q000235:genetics; D009030:Mosaicism / Q000235:genetics*; D009363:Neoplasm Proteins; D009456:Neurofibromatosis 1 / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011995:Recombination, Genetic; D014157:Transcription Factors / Q000235:genetics*
D009363:Neoplasm Proteins; C430461:SUZ12 protein, human; D014157:Transcription Factors