Article

Genetic Findings in a Cohort of Patients with Androgen Insensitivity Syndrome

2021-05-21

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive inherited disorder caused by mutations in <italic>AR</italic>, a gene encoding androgen receptor. The aim of this study was to expand genetic spectrum of AIS.<bold>Methods:</bold> We performed a retrospective study on consecutive patients diagnosed as AIS from 2010 to 2020 in a single tertiary ce...

Topics

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

Identifiers and source

Literature Corpus work: 4cf2ce2f-4793-5270-94f8-5d139f187046
DOI: 10.21203/rs.3.rs-499273/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic Findings in a Cohort of Patients with Androgen Insensitivity SyndromeDOI 10.21203/rs.3.rs-499273/v1Read

Novel pathogenic variants in the androgen receptor gene associated with androgen insensitivity syndrome identified through exome sequencing and in silico analysis.Semantic proximity Read

Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics.Semantic proximity Read

Phenotypic and molecular characteristics of androgen insensitivity syndrome patients.Semantic proximity Read

Novel and recurrent mutations in patients with androgen insensitivity syndromes.Semantic proximity Read

Clinical, Hormonal, Genetic, and Molecular Characteristics in Androgen Insensitivity Syndrome in an Asian Indian Cohort from a Single Centre in Western IndiaSemantic proximity Read

Molecular biology of androgen insensitivity.Semantic proximity Read

A novel variant in the 5’ UTR of the androgen receptor gene without coding region alterations in three patients with complete androgen insensitivity syndromeSemantic proximity Read

Clinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome.Semantic proximity Read

[Androgen insensitivity syndrome: clinical, hormonal and molecular analysis of 33 cases].Semantic proximity Read

Molecular genetics and general management of androgen insensitivity syndromeSemantic proximity Read

Six novel Mutation analysis of the androgen receptor gene in 17 Chinese patients with androgen insensitivity syndrome.Semantic proximity Read

Androgen insensitivity syndrome: clinical features and molecular defects.Semantic proximity Read