Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations

@article{LoCastro2013NeurobehavioralPO,
  title={Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations},
  author={A. Lo-Castro and F. Brancati and M. C. Digilio and F. Garaci and P. Bollero and P. Alfieri and P. Curatolo},
  journal={American Journal of Medical Genetics Part B: Neuropsychiatric Genetics},
  year={2013},
  volume={162}
}
KBG syndrome is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, skeletal abnormalities, and developmental delay. Recently, mutations in ANKRD11 gene have been identified in a subset of patients with KBG syndrome, while a contiguous gene deletion syndrome involving 16q24.3 region (including ANKRD11) was delineated in patients with facial dysmorphism, autism, intellectual disability, and brain abnormalities. Although numerous evidences point to a… Expand
25 Citations
Novel Mutations and Unreported Clinical Features in KBG Syndrome
  • 6
Clinical and genetic aspects of KBG syndrome
  • 36
  • PDF
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11
  • 29
KBG syndrome
  • 19
  • Highly Influenced
  • PDF
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
  • 43
  • PDF
A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome
  • 9
  • PDF
Exploring the behavioral and cognitive phenotype of KBG syndrome
  • 4
Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study
  • 4
KBG syndrome: Common and uncommon clinical features based on 31 new patients
  • 4
...
1
2
3
...

References

SHOWING 1-10 OF 27 REFERENCES
KBG syndrome in a cohort of Italian patients
  • 29
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG‐like syndrome
  • 33
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
  • 158
  • PDF
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms
  • 35
  • PDF
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
  • 82
  • PDF
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
  • 98
  • PDF
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
  • 104
  • PDF
The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype
  • 19
Structural variation of chromosomes in autism spectrum disorder.
  • 1,586
  • PDF
ANKRD11 gene deletion in a 17-year-old male.
  • 22
...
1
2
3
...