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

Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome.

European journal of medical genetics - 1 Mar 2021

Zhao Jianbo, Hou Yanqi, Fang Fang, Ding Changhong, Yang Xinying, Li Jiuwei, Cui Di, Cao Zhenhua, Zhang Hao

Abstract excerpt

Bohring-Opitz syndrome (BOS, or BOPS) is a rare congenital genetic disorder with multisystem abnormalities characterized by significant craniofacial dysmorphism, feeding difficulties, severe developmental delay, profound intellectual disability, flexion of elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints. Here, we report two Chinese BOS patients with distinctive phenotypes...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Craniosynostoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Intellectual Disability

Share to Mutation

Share to Phenotype

Share to Repressor Proteins

Source

Identifiers

PMID: 33529703
DOI: 10.1016/j.ejmg.2021.104155

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome.PMID 33529703Read ↗

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.Semantic proximity Read ↗

Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndromeSemantic proximity Read ↗

Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.Semantic proximity Read ↗

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.Semantic proximity Read ↗

A de novo truncating mutation in ASXL1 associated with segmental overgrowth.Semantic proximity Read ↗

Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.Semantic proximity Read ↗

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.Semantic proximity Read ↗

Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report.Semantic proximity Read ↗

Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.Semantic proximity Read ↗

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.Semantic proximity Read ↗

De Novo Nonsense Variant in ASXL3 in a Chinese Girl Causing Bainbridge–Ropers Syndrome: A Case Report and Review of LiteratureSemantic proximity Read ↗

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.Semantic proximity Read ↗

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