Clinical and genetic aspects of KBG syndrome.

doi:10.1002/ajmg.a.37842

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Article

Clinical and genetic aspects of KBG syndrome.

American journal of medical genetics. Part A - 1 Nov 2016

Low Karen, Ashraf Tazeen, Canham Natalie, Clayton-Smith Jill, Deshpande Charu, Donaldson Alan, Fisher Richard, Flinter Frances, Foulds Nicola, Fryer Alan, Gibson Kate, Hayes Ian, Hills Alison, Holder Susan, Irving Melita, Joss Shelagh, Kivuva Emma, Lachlan Kathryn, Magee Alex, McConnell Vivienne, McEntagart Meriel, Metcalfe Kay, Montgomery Tara, Newbury-Ecob Ruth, Stewart Fiona, Turnpenny Peter, Vogt Julie, Fitzpatrick David, Williams Maggie, Smithson Sarah

Abstract excerpt

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...

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Identifiers

PMID: 27667800
DOI: 10.1002/ajmg.a.37842
PMCID: PMC5435101

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Source receipt: pubmed, retrieved 7 Sept 2026.

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