Article

FBXO11 Variants are Associated with Intellectual Disability and Variable Clinical Manifestation in Chinese Patients

2023-10-28

Abstract excerpt

<title>Abstract</title> <p>F-box protein 11 (<italic>FBXO11</italic>) is a member of F-Box protein family, which has recently been proved to be associated with intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA, OMIM: 618089). In this study, 12 intellectual disability patients from 5 Chinese ID families were collected, and whole exome sequencing (WES), sanger sequencin...

Topics

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

Identifiers and source

Literature Corpus work: 7d2a6e55-5144-53c9-8207-4dfe07daa742
DOI: 10.21203/rs.3.rs-3470391/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

FBXO11 Variants are Associated with Intellectual Disability and Variable Clinical Manifestation in Chinese PatientsDOI 10.21203/rs.3.rs-3470391/v1Read

FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals.Semantic proximity Read

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.Semantic proximity Read

The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant.Semantic proximity Read

Defining FBXO11-Related Neurodevelopmental Disorder: Clinical, Molecular and Facial Assessment of 21 PatientsSemantic proximity Read

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencingSemantic proximity Read

Novel SETBP1 mutation in a Chinese family with intellectual disabilitySemantic proximity Read

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.Semantic proximity Read

IDGenetics: a comprehensive database for genes and mutations of intellectual disability related disorders.Semantic proximity Read

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.Semantic proximity Read

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.Semantic proximity Read

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes and establishment of LEO1 as a novel disease geneSemantic proximity Read

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.Semantic proximity Read