Forms and Documents
- Confirmation of a clinical diagnosis
- Carrier testing for individuals with a known familial ANKRD11 mutation
- Prenatal diagnosis in at-risk pregnancies
- Capillary Sequencing
- Deletion/Duplication Analysis
- K.L. Skjei et al., “KBG Syndrome: Reports of Twins, Neurological Characteristics, and Delineation of Diagnostic Criteria”. Am J Med Genet, Part A Vol. 143A: 292-300 (2007).
- S. Sacharow et al., “Familial 16q24.3 Microdeletion Involving ANKRD11 Causes a KBG-Like Syndrome”. Am J of Med Genet Part A Vol. 158A: 547-552 (2012).
- M.H. Willemsen et al., “Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome”. Eur J of Human Genet Vol 18: 429-435. (2010)
- M. Isrie et al., “Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms”. Eur J of Hum Genet Vol 20: 131-133 (2012).
- E.L. Youngs et al., “ANKRD11 gene deletion in a 17-year-old male”. Clinical Dysmorphology Vol 20: 170- 171. (2011)
- F. Brancati et al., “KBG syndrome in a cohort of Italian patients”. Am J Med Genet Part A Vol. 131A: 144- 149 (2004).
- A. Sirmaci et al., “Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia”. Am J Hum Genet Vol 89: 289-294 (2011).
- A. Zhang et al., “Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators”. J Biol. Chem Vol. 279: 33799-33805 (2004).
- A. Zhang et al., “Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1”. Biochemical and Biophysical Research Communications Vol.358: 1034–1040 (2007).