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

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

1 Oct 2019

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Epigenetics and DNA Methylation
Share to Fetal and Pediatric Neurological Disorders
Share to Microtubule and mitosis dynamics

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 31585108
DOI: 10.1016/j.ajhg.2019.08.013

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelayPMID 31585108Read ↗

Reprint of: Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.Semantic proximity Read ↗

Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.Semantic proximity Read ↗

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.Semantic proximity Read ↗

Presenilin-1 deficiency leads to loss of Cajal–Retzius neurons and cortical dysplasia similar to human type 2 lissencephalySemantic proximity Read ↗

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum DisordersSemantic proximity Read ↗

A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly.Semantic proximity Read ↗

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.Semantic proximity Read ↗

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: APC. Disease: adenomatous polyposis coli.Semantic proximity Read ↗

PTEN hamartoma tumor syndrome in children: Identification of recurrent mutations, an unpublished variant and a case of cerebral cortical dysplasia co-occurring with pleuropulmonary blastoma. Review of PTEN-related malformations of cortical developmentSemantic proximity Read ↗

Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.Semantic proximity Read ↗

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.Semantic proximity Read ↗

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