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

Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene

25 Mar 2015

Abstract excerpt

BACKGROUND: Wide genome screening through array comparative genomic hybridization made possible the recognition of the novel 19q13.11 deletion syndrome. There are very few cases reported with this deletion, but clinically this condition seems to be recognizable by pre and postnatal growth retardation, microcephaly, developmental delay/intellectual disabilities, speech disturbance, hypospadias (in males) and signs...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Ear and Nasal Anomalies
Share to Genomics and Rare Diseases
Share to Immunodeficiency and Autoimmune Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25883683
DOI: 10.1186/s13039-015-0123-x

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

Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 genePMID 25883683Read ↗

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactylySemantic proximity Read ↗

Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies.Semantic proximity Read ↗

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadiasSemantic proximity Read ↗

Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway.Semantic proximity Read ↗

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.Semantic proximity Read ↗

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delaySemantic proximity Read ↗

Establishing a reference group for distal 18q-: clinical description and molecular basis.Semantic proximity Read ↗

[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].Semantic proximity Read ↗

Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda.Semantic proximity Read ↗

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

Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation.Semantic proximity Read ↗

SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.Semantic proximity Read ↗

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