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Article

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

Journal of human genetics - 1 Aug 2017

Kaname Tadashi, Yanagi Kumiko

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Identifiers

PMID: 28566769
DOI: 10.1038/jhg.2017.58
PMCID: PMC5537411

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A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.PMID 28566769Read ↗

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

A splice-site variant in ANKRD11 associated with classical KBG syndrome.Semantic proximity Read ↗

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patientsSemantic proximity Read ↗

ANKRD17 Gene Heterozygous Variant Leads to Chopra-Amiel-Gordon Syndrome: A Case Study and Literature ReviewSemantic proximity Read ↗

ANKRD11 variants: KBG syndrome and beyond.Semantic proximity Read ↗

Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.Semantic proximity Read ↗

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

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

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.Semantic proximity Read ↗

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

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

Identification of a novel BICRA variant leading to the newly described Coffin-Siris syndrome 12.Semantic proximity Read ↗

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