title: 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.
authors.forename: E
authors.initials: E
authors.lastname: Petek
authors.forename: D E
authors.initials: DE
authors.lastname: Jenne
authors.forename: J
authors.initials: J
authors.lastname: Smolle
authors.forename: B
authors.initials: B
authors.lastname: Binder
authors.forename: W
authors.initials: W
authors.lastname: Lasinger
authors.forename: C
authors.initials: C
authors.lastname: Windpassinger
authors.forename: K
authors.initials: K
authors.lastname: Wagner
authors.forename: P M
authors.initials: PM
authors.lastname: Kroisel
authors.forename: H
authors.initials: H
authors.lastname: Kehrer-Sawatzki
mesh_terms: 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*
chemical_list: D009363:Neoplasm Proteins; C430461:SUZ12 protein, human; D014157:Transcription Factors