Clinical and Genetic Aspects of KBG Syndrome

@inproceedings{Low2016ClinicalAG,
  title={Clinical and Genetic Aspects of KBG Syndrome},
  author={Karen J Low and Tazeen Ashraf and Natalie L E Canham and Jill Clayton-Smith and Charu Deshpande and Alan C. Donaldson and Richard B. Fisher and Frances A. Flinter and Nicola C. Foulds and A. T. Fryer and Kate Gibson and Ian S. Hayes and Alison C. Hills and Susan E. Holder and Melita D. Irving and Shelagh K. Joss and Emma C Kivuva and Kathryn Lachlan and Alex C. Magee and Vivienne P M McConnell and Meriel M. McEntagart and Kay A. Metcalfe and Tara E. Montgomery and Ruth Newbury-Ecob and Fiona Jane Stewart and Peter D Turnpenny and Julie N. Vogt and David R. FitzPatrick and Maggie M. Williams and Sarah L Smithson},
  booktitle={American journal of medical genetics. Part A},
  year={2016}
}
KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11, one of the ankyrin repeat-containing cofactors. We describe 32 KBG patients aged 2-47 years from 27 families ascertained via two pathways: targeted ANKRD11 sequencing (TS) in a group who had a clinical diagnosis of KBG and whole exome sequencing (ES) in a second group in whom the diagnosis was unknown. Speech delay and learning difficulties were… CONTINUE READING
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KBG syndrome: An Australian experience.

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A splice-site variant in ANKRD11 associated with classical KBG syndrome.

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