Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

European journal of medical genetics - 1 Jan 2000

Balci Tugce B, Sawyer Sarah L, Davila Jorge, Humphreys Peter, Dyment David A

Abstract excerpt

Microdeletions of 2p15-16.1 have been reported in 15 patients with a recognizable syndrome of dysmorphic features, intellectual disability and microcephaly. Facial features include telecanthus, short palpebral fissures, epicanthal folds, a broad nasal root, smooth and long philtrum and large ears. Brain malformations can be observed in this syndrome and include hypoplasia of the corpus callosum and a simplified...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 2

Share to Craniofacial Abnormalities

Share to Guanylate Kinases

Share to Nuclear Proteins

Share to Repressor Proteins

Source

Identifiers

PMID: 25979662
DOI: 10.1016/j.ejmg.2015.04.006

Genes

CASK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.PMID 25979662Read ↗

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.Semantic proximity Read ↗

BCL11B-related disorder in two canadian children: Expanding the clinical phenotype.Semantic proximity Read ↗

A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: A case report.Semantic proximity Read ↗

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlationsSemantic proximity Read ↗

De novo microdeletion of BCL11A is associated with severe speech sound disorder.Semantic proximity Read ↗

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.Semantic proximity Read ↗

Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices.Semantic proximity Read ↗

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

Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature reviewSemantic proximity Read ↗

A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.Semantic proximity Read ↗

A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.Semantic proximity Read ↗

The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.