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Article

Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant.

Clinical dysmorphology - 1 Jul 2022

Geckinli Bilgen Bilge, Alavanda Ceren, Arslan Ates Esra, Yildirim Ozlem, Arman Ahmet

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PMID: 35394473
DOI: 10.1097/MCD.0000000000000421

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Related research

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Research trail→

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Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant.PMID 35394473Read ↗

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

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

A missense mutation in ANKRD26 segregates with thrombocytopenia.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 ↗

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

A new ankyrin mutation (ANK1 EXON E9X) causing severe hereditary spherocytosis in the neonatal period.Semantic proximity Read ↗

Novel hereditary spherocytosis-associated splice site mutation in the ANK1 gene caused by parental gonosomal mosaicism.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 ↗

Two Variants of the <i>ANK1</i> Gene Associated with Hereditary SpherocytosisSemantic proximity Read ↗

A Novel de novo Mutation in ANK1 Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis.Semantic proximity Read ↗

Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene.Semantic proximity Read ↗

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