Article

Mild intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss: A case report

2023-11-28

Abstract excerpt

<h4>Background: </h4> Multiple genome sequencing studies have identified genetic abnormalities as major causes of severe intellectual disability (ID). However, many children affected by mild ID and borderline intellectual functioning (BIF) lack a genetic diagnosis because known causative ID genetic mutations have not been identified or the role of genetic variants in mild cases is less understood. Genetic variant...

Topics

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

Identifiers and source

Literature Corpus work: b35d2b78-2b57-5d2c-991e-61ba4261c0b1
DOI: 10.21203/rs.3.rs-3647201/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mild intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss: A case reportDOI 10.21203/rs.3.rs-3647201/v1Read

Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disabilitySemantic proximity Read

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report.Semantic proximity Read

First Report of an Inherited MYCBP2 Neurodevelopmental Disorder: Review of Proband and Parent PresentationSemantic proximity Read

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomaliesSemantic proximity Read

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.Semantic proximity Read

Identification of the Presence of a Novel Variant of CC2D1A Linked to Autosomal Recessive Intellectual Disability 3 in an Iranian Family and Investigating the Structure and Pleiotropic Effects of this GeneSemantic proximity Read

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.Semantic proximity Read

Novel EP300 and NSD1 variants in Chinese pediatric patients with Rubinstein-Taybi syndrome: evidence for oligogenic inheritance and phenotypic expansion.Semantic proximity Read

[Pontocerebellar hypoplasia type 2B due to compound heterozygous variants of TSEN2 gene: A case report and literature review].Semantic proximity Read

A novel MED12 mutation: Evidence for a fourth phenotype.Semantic proximity Read

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.Semantic proximity Read