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

Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report.

BMC medical genomics - 29 Jan 2022

Zhu LiFen, Cao DingYa, Chen Min, Zhang Huimin, Sun XiaoFang, Liu WeiQiang

Abstract excerpt

BACKGROUND: Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by variations in the ESCO2 gene; however, prenatal diagnosis of RBS has never been reported in Chinese families. Additionally, fetal-specific phenotypic characteristics associated with ESCO2 variants have not been reported. CASE PRESENTATION: A fetus in a healthy, nonconsanguineous Chinese family with multiple serious congenital...

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 Cleft Lip

Share to Cleft Palate

Share to Craniofacial Abnormalities

Share to Ectromelia

Share to Hypertelorism

Share to Prenatal Diagnosis

Source

Open in PubMed Open full text

Identifiers

PMID: 35093090
DOI: 10.1186/s12920-022-01161-8
PMCID: PMC8800352

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report.PMID 35093090Read ↗

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

Expanding the mutation and clinical spectrum of Roberts syndrome.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 ↗

The Importance of Prenatal WES Testing in the Romanian PopulationSemantic proximity Read ↗

ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION.Semantic proximity Read ↗

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

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.Semantic proximity Read ↗

Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature.Semantic proximity Read ↗

A clinical and molecular analysis of a patient with Emanuel syndrome.Semantic proximity Read ↗

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

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.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 ↗

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