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

The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant.

Medicine - 1 Apr 2020

Zhang Qiang, Chen Shaoke, Qin Zailong, Zheng Haiyang, Fan Xin

Abstract excerpt

RATIONALE: This case report expands the mutation and phenotypic spectra of Beaulieu-Boycott-Innes syndrome (BBIS), and will be valuable for mutation-based pre- and post-natal screening of BBIS when conducting a genetic diagnosis. PATIENT CONCERNS: A 4-year old boy from Guilin City, Guangxi Zhuang Autonomous Region, China, was referred to our clinic for clarification of his diagnosis because he showed moderate...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Facies

Share to Genetic Counseling

Share to Intellectual Disability

Share to Muscular Atrophy

Share to RNA-Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 32282736
DOI: 10.1097/MD.0000000000019751
PMCID: PMC7220430

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant.PMID 32282736Read ↗

A truncating variant in the THOC6 gene with new findings in a patient with Beaulieu-Boycott-Innes syndrome.Semantic proximity Read ↗

Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.Semantic proximity Read ↗

A novel clinical phenotype was identified in a case of THOC6 mutant fetusSemantic proximity Read ↗

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.Semantic proximity Read ↗

Proteinuria in Two Sisters with Beaulieu-Boycott-Innes Syndrome, A Case Report.Semantic proximity Read ↗

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.Semantic proximity Read ↗

Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.Semantic proximity Read ↗

Identification of Oliver-McFarlane syndrome caused by novel compound heterozygous variants of PNPLA6.Semantic proximity Read ↗

Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.Semantic proximity Read ↗

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report.Semantic proximity Read ↗

Functional study of three cases with novel TBX19 variants.Semantic proximity Read ↗

[Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report].Semantic proximity Read ↗

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