Article

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants

2020-08-31

Abstract excerpt

<h4>Background: </h4> Isolated macrodactyly is a severe congenital hand anomaly with functional and physiological impact. Known causative genes include PIK3CA , AKT1 and PTEN. The aim of this study is to gain insights into the genetics basis of isolated macrodactyly. <h4>Results: </h4>: We enrolled 24 patients with isolated macrodactyly. Four of them were diagnosed with Proteus syndrome based on skin presentations...

Topics

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

Identifiers and source

Literature Corpus work: e10150b9-674f-5b00-8da3-c42286061ccf
DOI: 10.21203/rs.2.19798/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variantsDOI 10.21203/rs.2.19798/v2Read

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.Semantic proximity Read

An investigation of PIK3CA mutations in isolated macrodactyly.Semantic proximity Read

[PIK3CA mutation analysis in isolated macrodactyly].Semantic proximity Read

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.Semantic proximity Read

[Clinical characteristics of 170 cases of macrodactyly].Semantic proximity Read

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.Semantic proximity Read

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delaySemantic proximity Read

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.Semantic proximity Read

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.Semantic proximity Read

Insights into the pathogenesis of macrodactyly.Semantic proximity Read

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.Semantic proximity Read

Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian populationSemantic proximity Read