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Article

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

American journal of medical genetics. Part A - 1 Oct 2017

Low Karen J, Hills Alison, Williams Maggie, Duff-Farrier Celia, McKee Shane, Smithson Sarah F

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Identifiers

PMID: 28815928
DOI: 10.1002/ajmg.a.38397

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Related research

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Research trail→

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A splice-site variant in ANKRD11 associated with classical KBG syndrome.PMID 28815928Read ↗

Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype.Semantic proximity Read ↗

KBG syndrome: case report of a novel variant ANKR11 gene mutation and literature review.Semantic proximity Read ↗

ANKRD11 gene deletion in a 17-year-old male.Semantic proximity Read ↗

KBG syndrome involving a single-nucleotide duplication in ANKRD11.Semantic proximity Read ↗

Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant.Semantic proximity Read ↗

A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.Semantic proximity Read ↗

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.Semantic proximity Read ↗

A missense mutation in ANKRD26 segregates with thrombocytopenia.Semantic proximity Read ↗

Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.Semantic proximity Read ↗

Missense variants in <i>ANKRD11</i> cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinSemantic proximity Read ↗

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.Semantic proximity Read ↗

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.Semantic proximity Read ↗

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