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

Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.

Journal of human genetics - 1 Dec 2015

Urquhart Jill E, Williams Simon G, Bhaskar Sanjeev S, Bowers Naomi, Clayton-Smith Jill, Newman William G

Abstract excerpt

Dubowitz syndrome is a presumed autosomal recessive disorder characterized by multiple congenital abnormalities: microcephaly, learning and developmental delay, growth failure, and a predisposition to allergies and eczema. There have been more than 150 individuals reported to have this diagnosis, but no unifying genetic alteration has been identified indicating genetic heterogeneity. We report on a pair of...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 19
Share to Eczema
Share to Facies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Growth Disorders

Share to Intellectual Disability

Share to Microcephaly

Share to Sequence Deletion

Share to Twins, Monozygotic

Source

Identifiers

PMID: 26377242
DOI: 10.1038/jhg.2015.111

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.PMID 26377242Read ↗

Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further researchSemantic proximity Read ↗

Phenotypic characterization of derivative 22 syndrome: case series and review.Semantic proximity Read ↗

A case with cardiac, skeletal, speech, and motor traits narrows the subtelomeric 19p13.3 microdeletion region to 46 kb.Semantic proximity Read ↗

Clinical manifestations of chromosome 19p13.11 duplication.Semantic proximity Read ↗

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.Semantic proximity Read ↗

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.Semantic proximity Read ↗

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.Semantic proximity Read ↗

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.Semantic proximity Read ↗

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literatureSemantic proximity Read ↗

Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.Semantic proximity Read ↗

Clinical comparison of overlapping deletions of 19p13.3.Semantic proximity Read ↗

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.Semantic proximity Read ↗

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