Article

Sex-specific Difference in Phenotype of Kabuki Syndrome Type 2 Patients: A Matched Case-Control Study

2021-08-03

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Kabuki syndrome (KS) is a monogenic disorder leading to special facial features, mental retardation, and multiple system malformations. <italic>KDM6A</italic> (MIM*300128) is the pathogenic gene of Kabuki syndrome type 2 (KS2, MIM#300867), which accounts for only 5%–8% of KS. Previous studies suggested that female patients with KS2 may have a milder phenotype. T...

Topics

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

Identifiers and source

Literature Corpus work: 1ece4b1c-364a-5779-8531-a48a02a59528
DOI: 10.21203/rs.3.rs-736092/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Sex-specific Difference in Phenotype of Kabuki Syndrome Type 2 Patients: A Matched Case-Control StudyDOI 10.21203/rs.3.rs-736092/v1Read

Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study.Semantic proximity Read

Clinical and molecular characteristics of Korean patients with Kabuki syndrome.Semantic proximity Read

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.Semantic proximity Read

Kabuki Syndrome-Clinical Review with Molecular Aspects.Semantic proximity Read

Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.Semantic proximity Read

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.Semantic proximity Read

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.Semantic proximity Read

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.Semantic proximity Read

From Genotype to Phenotype-A Review of Kabuki Syndrome.Semantic proximity Read

Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.Semantic proximity Read

Kabuki syndrome: clinical and molecular diagnosis in the first year of life.Semantic proximity Read

Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.Semantic proximity Read