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Article

A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome.

Clinical dysmorphology - 1 Jul 2016

Arunachal Gautham, Danda Sumita, Omprakash Sabita, Kumar Sathish

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Identifiers

PMID: 27043953
DOI: 10.1097/MCD.0000000000000126

Genes

ASXL1

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome.PMID 27043953Read ↗

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.Semantic proximity Read ↗

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.Semantic proximity Read ↗

Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome.Semantic proximity Read ↗

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.Semantic proximity Read ↗

Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndromeSemantic proximity Read ↗

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.Semantic proximity Read ↗

Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother.Semantic proximity Read ↗

Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz SyndromeSemantic proximity Read ↗

Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.Semantic proximity Read ↗

The most commonly reported variant in ASXL1 (c.1934dupG;p.Gly646TrpfsX12) is not a somatic alterationSemantic proximity Read ↗

Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.Semantic proximity Read ↗

Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.Semantic proximity Read ↗

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