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

פריטים דומים

• Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions
  מאת: Jenne, Dieter E., et al.
  יצא לאור: (2001)
• High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene
  מאת: Kehrer-Sawatzki, H., et al.
  יצא לאור: (2004)
• Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q
  מאת: KROISEL, P. M., et al.
  יצא לאור: (2000)
• Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region
  מאת: Kehrer-Sawatzki, H, et al.
  יצא לאור: (2003)
• Clinical characterization of children and adolescents with NF1 microdeletions
  מאת: Kehrer-Sawatzki, Hildegard, et al.
  יצא לאור: (2020)