Article

Further delineation of the phenotypic spectrum of pathogenic variants in MED13

2021-09-20

Abstract excerpt

<title>Abstract</title> <p><bold>Introduction:</bold>Diagnostic yield of the genetic testing in search for the molecular basis of neurodevelopmental diseases remains low due to incomplete knowledge of the phenotypic spectrum of pathogenic variants in a specific gene. Recently the <italic>MED13 </italic>gene was linked to neurodevelopmental disease. <bold>Methods:</bold>Four families with children affected by auti...

Topics

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

Identifiers and source

Literature Corpus work: 8823b2c4-26c8-5698-84dc-9de89d30801b
DOI: 10.21203/rs.3.rs-910435/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Further delineation of the phenotypic spectrum of pathogenic variants in MED13DOI 10.21203/rs.3.rs-910435/v1Read

Expanding the Variant Spectrum of <em>MED13L</em>-Associated Neurodevelopmental Disorder: Insights from the 100k Genomes ProjectSemantic proximity Read

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.Semantic proximity Read

Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.Semantic proximity Read

Identification of a pathogenic mutation in PCDH19-related female-limited epilepsySemantic proximity Read

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

Two novel pathogenic variants in MED13L: one familial and one isolated case.Semantic proximity Read

Case Study and Literature Review of Phelan-McDermid Syndrome Caused By a Pathogenic Mutation in The SHANK3 GeneSemantic proximity Read

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.Semantic proximity Read

Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohortSemantic proximity Read

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.Semantic proximity Read

Expansion of the Phenotypic and Genotypic Spectrum of MED13L-Associated Neurodevelopmental Disorder: A Case Report and Literature Review.Semantic proximity Read

Expanding the genotype-phenotype spectrum in SCN8A-related disordersSemantic proximity Read