A Case With 4 de Novo Copy Number Variations With Clinical Features That Overlap 1q43q44 Microdeletion and 3q29 Microduplication Syndromes

Antzeko izenburuak

• A Case With 4 de Novo Copy Number Variations With Clinical Features That Overlap 1q43q44 Microdeletion and 3q29 Microduplication Syndromes
  nork: Miriam Kessi MD, et al.
  Argitaratua: (2018-09-01)
• Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
  nork: Ballif, Blake C, et al.
  Argitaratua: (2008)
• Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting
  nork: Goobie, S., et al.
  Argitaratua: (2009)
• A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome
  nork: de Munnik, Sonja A, et al.
  Argitaratua: (2014)
• Parental Imbalances Involving Chromosomes 15q and 22q May Predispose to the Formation of De Novo Pathogenic Microdeletions and Microduplications in the Offspring
  nork: Capra, Valeria, et al.
  Argitaratua: (2013)