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

Intragenic Deletion of the ZMYND11 Gene in 10p15.3 is Associated with Developmental Delay Phenotype: A Case Report.

Cytogenetic and genome research - 1 Jan 2021

Huynh Minh-Tuan, Tran Cong Toai, Joubert Madeleine, Bénéteau Claire

Abstract excerpt

Submicroscopic 10p15.3 microdeletions were previously reported to be associated with developmental delay, and the smallest region of overlap of 10p15.3 deletion including DIP2C and ZMYND11 was defined. Moreover, pathogenic ZMYND11 truncating variants were subsequently identified in a cohort of patients with developmental delay. Of interest, patients harboring 10p15.3 microdeletions or pathogenic ZMYND11...

Read the complete abstract on PubMed

Topics

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

Share to Cell Cycle Proteins
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 10

Share to Co-Repressor Proteins

Share to Developmental Disabilities

Share to Haploinsufficiency

Share to Intellectual Disability

Share to Sequence Deletion

Source

Identifiers

PMID: 34818214
DOI: 10.1159/000518689

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Intragenic Deletion of the ZMYND11 Gene in 10p15.3 is Associated with Developmental Delay Phenotype: A Case Report.PMID 34818214Read ↗

Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.Semantic proximity Read ↗

A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review.Semantic proximity Read ↗

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.Semantic proximity Read ↗

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.Semantic proximity Read ↗

Further Delineation of Clinical Phenotype of ZMYND11 Variants in Patients with Neurodevelopmental Dysmorphic Syndrome.Semantic proximity Read ↗

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.Semantic proximity Read ↗

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.Semantic proximity Read ↗

De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment.Semantic proximity Read ↗

A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.Semantic proximity Read ↗

Further Delineation of Clinical Phenotype of <em>ZMYND11 </em>Variants in Patients with Neurodevelopmental Dysmorphic Syndrome and Hyperinsulinemic HypoglycemiaSemantic proximity Read ↗

Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome.Semantic proximity Read ↗

Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.Semantic proximity Read ↗

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