Article

Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with <i>ACTB</i> mutations

2018-04-18

Abstract excerpt

<h4>Introductory paragraph</h4> Until recently missense germ-line mutations in ACTB , encoding the ubiquitously expressed β-cytoplasmic actin (CYA), were exclusively associated with Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF), a complex developmental disorder 1,2 . Here, we report six patients with previously undescribed heterozygous variants clustered in the 3’-coding region of ACTB . These patients...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c8ec788f-370c-5a52-a09d-1d5ac9361412
DOI: 10.1101/303909

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with <i>ACTB</i> mutationsDOI 10.1101/303909Read

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopeniaSemantic proximity Read

Genomic and biological panoramas of non-muscle actinopathiesSemantic proximity Read

Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics.Semantic proximity Read

Further delineation of putative ACTB loss-of-function variants: A 4-patient series.Semantic proximity Read

Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial Syndrome with a variant in <i>ACTB</i>Semantic proximity Read

[Overview of cytoskeletal actin mutations associated with rare diseases].Semantic proximity Read

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.Semantic proximity Read

Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephaly.Semantic proximity Read

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.Semantic proximity Read

Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephalySemantic proximity Read

Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.Semantic proximity Read

Molecular mechanisms of disease-related human β-actin mutations p.R183W and p.E364K.Semantic proximity Read