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

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

Medicine - 4 Feb 2022

Wang Dongbo, Yuan Xin, Guo Haichun, Yan Shuyuan, Wang Guohong, Wang Yanling, Wang Tuanmei, He Jun, Peng Xiangwen

Abstract excerpt

RATIONALE: Bohring-Opitz syndrome is a severe congenital disorder associated with a de novo mutation in the additional sex combs-like 1 (ASXL1) gene, and it is characterized by symptoms that include developmental delay and musculoskeletal and neurological features. PATIENT CONCERNS: The patient was a girl, an in vitro fertilization (IVF) baby, with delayed motor development, drooling, short stature, slow growth,...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Craniosynostoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fertilization in Vitro

Share to Infant

Share to Intellectual Disability

Share to Mutation

Share to Phenotype

Share to Repressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 35119035
DOI: 10.1097/MD.0000000000028759
PMCID: PMC8812699

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

Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report.PMID 35119035Read ↗

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

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

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

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.Semantic proximity Read ↗

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

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

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

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.Semantic proximity Read ↗

Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.Semantic proximity Read ↗

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

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

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