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

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.

Archives of oral biology - 1 Nov 2020

Kantaputra Piranit Nik, Dejkhamron Prapai, Tongsima Sissades, Ngamphiw Chumpol, Intachai Worrachet, Ngiwsara Lukana, Sawangareetrakul Phannee, Svasti Jisnuson, Olsen Bjorn, Cairns James R Ketudat, Bumroongkit Kanokkan

Abstract excerpt

OBJECTIVE: Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction. A homozygous mutation in ESCO2 has recently been reported to cause Juberg-Hayward syndrome. Our objective was to...

Read the complete abstract on PubMed

Topics

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

Share to Acetyltransferases
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniofacial Abnormalities

Share to Ectromelia

Share to Hypertelorism

Share to Mutation

Share to Orofaciodigital Syndromes

Source

Identifiers

PMID: 32977150
DOI: 10.1016/j.archoralbio.2020.104918

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.PMID 32977150Read ↗

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.Semantic proximity Read ↗

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.Semantic proximity Read ↗

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.Semantic proximity Read ↗

Expanding the mutation and clinical spectrum of Roberts syndrome.Semantic proximity Read ↗

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.Semantic proximity Read ↗

A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome.Semantic proximity Read ↗

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.Semantic proximity Read ↗

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.Semantic proximity Read ↗

Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.Semantic proximity Read ↗

Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profiles.Semantic proximity Read ↗

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.Semantic proximity Read ↗

Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.Semantic proximity Read ↗

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